Variant (rsID / SNP)

rs200821440

rs200821440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTBK2. Location: chromosome 15, position 43,132,604. Clinical significance in the table: Likely benign.

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Reference-table entries

TTBK2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:43132604
Cytoband: 15q15.2
HGVS: NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)
Allele change: Missense_G82A

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.