NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) AND Spastic paraplegia 8
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000001222 |
Variant: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) |
|
| Type: | Variant |
Allele: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) 16202 |
|
| Gene: | WASHC5 |
| Type: | single nucleotide variant |
| Location: |
Chr8: 126073434
- assembly
GRCh37 Chr8: 125061192 - assembly GRCh38 |
| References: | dbSNP:
80338865 OMIM: 610657.0003 UniProtKB: Q12768#VAR_031955 |
Condition |
|
| Disease: | Spastic paraplegia 8 |