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Variant (rsID / SNP)

rs6050063

TMC2

rs6050063 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC2. Location: chromosome 20, position 2,539,387. The table records no clinical significance for this variant.

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Reference-table entries

TMC2Not classified
Variant type
missense_variant
Chromosome / position
20:2539387
HGVS
NM_080751.3,c.368G>A,p.Arg123Lys
Allele change
Missense_R123K

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.