Variant (rsID / SNP)

rs7812319

rs7812319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WASHC5. Location: chromosome 8, position 126,091,094. Clinical significance in the table: Benign.

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Reference-table entries

WASHC5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:126091094
Cytoband: 8q24.13
HGVS: NM_014846.4(WASHC5):c.597A>G (p.Pro199=)
Allele change: Synonymous_P199P

Associated conditions / phenotypes

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

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.