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Select item 18003241.

rs1800324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:38381375 (GRCh38)
X:38240628 (GRCh37)
Canonical SPDI:: NC_000023.11:38381374:T:C
Gene:: OTC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.38381375T>C, NC_000023.10:g.38240628T>C, NG_008471.1:g.33893T>C, NM_000531.6:c.332T>C, NM_000531.5:c.332T>C, NM_001407092.1:c.332T>C, XM_017029556.2:c.332T>C, XM_017029556.1:c.332T>C, NP_000522.3:p.Leu111Pro, XP_016885045.1:p.Leu111Pro

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