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Variant (rsID / SNP)

rs1051640

ABCC3

rs1051640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC3. Location: chromosome 17, position 48,768,486. The table records no clinical significance for this variant.

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Reference-table entries

ABCC3Not classified
Variant type
synonymous_variant
Chromosome / position
17:48768486
HGVS
NM_003786.4,c.4509A>G,p.Glu1503Glu
Allele change
Synonymous_E1503E

Associated conditions / phenotypes

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus|Retinoblastoma|Germ Cells Tumors

Public references

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