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: | SCN1A |
| 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 |