Variant (rsID / SNP)

rs180791005

rs180791005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTBK2. Location: chromosome 15, position 43,044,503. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TTBK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:43044503
Cytoband: 15q15.2
HGVS: NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)
Allele change: Missense_L981V

Associated conditions / phenotypes

Spinocerebellar ataxia type 11

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.