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NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) AND Autistic disorder of childhood onset

Significance: Uncertain significance
ClinVar: RCV000059464

Variant: NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln)

Type: Variant
Allele: NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) 79480
Gene:
Type: single nucleotide variant
Location: Chr2: 166045080 - assembly GRCh38
Chr2: 166901590 - assembly GRCh37
References: dbSNP: 121918817
UniProtKB/Swiss-Prot: VAR_029674
UniProtKB: P35498#VAR_029674
HGMD: CM034567

Condition

Disease: Autistic disorder of childhood onset