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Variant (rsID / SNP)

rs72720524

WASHC5

rs72720524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WASHC5. Location: chromosome 8, position 126,091,044. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WASHC5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:126091044
Cytoband
8q24.13
HGVS
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu)
Allele change
Missense_P216L

Associated conditions / phenotypes

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

Public references

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