Variant (rsID / SNP)

rs144199562

rs144199562 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTBK2. Location: chromosome 15, position 43,038,397. Clinical significance in the table: Benign.

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Reference-table entries

TTBK2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:43038397
Cytoband: 15q15.2
HGVS: NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)
Allele change: Missense_L1111V

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.