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Select item 289354981.

rs28935498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:54470182 (GRCh38)
X:54496615 (GRCh37)
Canonical SPDI:: NC_000023.11:54470181:G:A
Gene:: FGD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign,uncertain-significance,conflicting-interpretations-of-pathogenicity,benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0003473/8 (ALFA)
A=0.0002081/1 (1000Genomes_30X)
A=0.0003546/39 (GnomAD_genomes)
A=0.0003605/25 (ExAC)
A=0.0003967/105 (TOPMED)
A=0.0008105/851 (GnomAD_exomes)
HGVS:: NC_000023.11:g.54470182G>A, NC_000023.10:g.54496615G>A, NG_008054.1:g.30985C>T, NM_004463.3:c.935C>T, NM_004463.2:c.935C>T, NP_004454.2:p.Pro312Leu

dbSNP