Variant (rsID / SNP)

rs80338866

rs80338866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WASHC5. Location: chromosome 8, position 126,069,816. Clinical significance in the table: Pathogenic.

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Reference-table entries

WASHC5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:126069816
Cytoband: 8q24.13
HGVS: NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe)
Allele change: Missense_L619F

Associated conditions / phenotypes

Hereditary spastic paraplegia 8|Ritscher-Schinzel syndrome|Hereditary spastic paraplegia 8

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.