Entry Search - 114205 601005 611875 618447 620029

Search: '114205 601005 611875 618447 620029 (Search in: MIM number)'

Results: 5 entries.

* 114205. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:1,970,780-2,697,950
Matching terms: 114205
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12p13.33	Brugada syndrome 3	611875	AD	3
	Long QT syndrome 8	618447	AD	3
	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	620029	AD	3
	Timothy syndrome	601005	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Zhejiang University-Adinov… Gene Connection for the He… NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1230096008

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# 611875. BRUGADA SYNDROME 3; BRGDA3
Cytogenetic location: 12p13.33
Matching terms: 611875
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.33	Brugada syndrome 3	611875	AD	3	CACNA1C	114205

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Brugada syndrome - PS601144 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Brugada syndrome 9	AD	3	616399	KCND3	605411
3p22.3	Brugada syndrome 2	AD	3	611777	GPD1L	611778
3p22.2	Brugada syndrome 1	AD	3	601144	SCN5A	600163
10p12.33-p12.31	Brugada syndrome 4	AD	3	611876	CACNB2	600003
11q13.4	?Brugada syndrome 6		3	613119	KCNE3	604433
11q24.1	Brugada syndrome 7	AD	3	613120	SCN3B	608214
11q24.1	Atrial fibrillation, familial, 16	AD	3	613120	SCN3B	608214
12p13.33	Brugada syndrome 3	AD	3	611875	CACNA1C	114205
15q24.1	Brugada syndrome 8		3	613123	HCN4	605206
19q13.11	Brugada syndrome 5		3	612838	SCN1B	600235
19q13.11	Cardiac conduction defect, nonspecific		3	612838	SCN1B	600235

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews CACNA1C-Related Disorders Brugada Syndrome Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 130 DO: 0110220

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# 618447. LONG QT SYNDROME 8; LQT8
Cytogenetic location: 12p13.33
Matching terms: 618447
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.33	Long QT syndrome 8	618447	AD	3	CACNA1C	114205

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Long QT syndrome - PS192500 - 21 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2p21	Long QT syndrome 15	AD	3	616249	CALM2	114182
3p25.3	Long QT syndrome 9	AD	3	611818	CAV3	601253
3p22.2	Long QT syndrome 3	AD	3	603830	SCN5A	600163
4q25-q26	Cardiac arrhythmia, ankyrin-B-related	AD	3	600919	ANK2	106410
4q25-q26	Long QT syndrome 4	AD	3	600919	ANK2	106410
7q21.2	?Long QT syndrome 11	AD	3	611820	AKAP9	604001
7q36.1	Long QT syndrome 2	AD	3	613688	KCNH2	152427
11p15.5-p15.4	{Long QT syndrome 1, acquired, susceptibility to}	AD	3	192500	KCNQ1	607542
11p15.5-p15.4	Long QT syndrome 1	AD	3	192500	KCNQ1	607542
11q23.3	Long QT syndrome 10	AD	3	611819	SCN4B	608256
11q23.3	Atrial fibrillation, familial, 17	AD	3	611819	SCN4B	608256
11q24.3	Long QT syndrome 13	AD	3	613485	KCNJ5	600734
12p13.33	Long QT syndrome 8	AD	3	618447	CACNA1C	114205
12q12	{Long QT syndrome, acquired, reduced susceptibility to}	AD	3	613688	ALG10B	603313
14q32.11	Long QT syndrome 14	AD	3	616247	CALM1	114180
17q24.3	Andersen syndrome	AD	3	170390	KCNJ2	600681
19q13.32	Long QT syndrome 16	AD	3	618782	CALM3	114183
19q13.32	?Ventricular tachycardia, catecholaminergic polymorphic 6	AD	3	618782	CALM3	114183
20q11.21	Long QT syndrome 12	AD	3	612955	SNTA1	601017
21q22.11	Long QT syndrome 6	AD	3	613693	KCNE2	603796
21q22.12	Long QT syndrome 5	AD	3	613695	KCNE1	176261

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Links
Testing GTR EuroGentest Timothy syndrome Familial long QT syndrome	Clinical Resources Clinical Trials EuroGentest Timothy syndrome Familial long QT syndrome Gene Reviews Long QT Syndrome Overview CACNA1C-Related Disorders MedlinePlus Genetics GTR OrphaNet Timothy syndrome Familial long QT syndrome	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 1230096008 ORPHA: 65283, 768 DO: 0110649

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# 601005. TIMOTHY SYNDROME; TS
Cytogenetic location: 12p13.33
Matching terms: 601005
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.33	Timothy syndrome	601005	AD	3	CACNA1C	114205

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Links
Testing GTR EuroGentest Timothy syndrome Familial long QT syndrome	Clinical Resources Clinical Trials EuroGentest Timothy syndrome Familial long QT syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet Timothy syndrome Familial long QT syndrome POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
SNOMEDCT: 1230096008 ORPHA: 65283, 768 DO: 0060173

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# 620029. NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES; NEDHLSS
Cytogenetic location: 12p13.33
Matching terms: 620029
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12p13.33	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	620029	AD	3	CACNA1C	114205

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 528084 DO: 0070536

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Search: 114205 601005 611875 618447 620029 (Search in: MIM number)

Results: 5 entries.

* 114205. CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C
Cytogenetic location: 12p13.33, Genomic coordinates (GRCh38): 12:1,970,780-2,697,950
Matching terms: 114205

# 611875. BRUGADA SYNDROME 3; BRGDA3
Cytogenetic location: 12p13.33
Matching terms: 611875

# 618447. LONG QT SYNDROME 8; LQT8
Cytogenetic location: 12p13.33
Matching terms: 618447

# 601005. TIMOTHY SYNDROME; TS
Cytogenetic location: 12p13.33
Matching terms: 601005

# 620029. NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES; NEDHLSS
Cytogenetic location: 12p13.33
Matching terms: 620029

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