Variant (rsID / SNP)

rs80356560

rs80356560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TIMM8A. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TIMM8ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)
Allele change: Missense_C66W

Associated conditions / phenotypes

Deafness dystonia syndrome

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.