Variant (rsID / SNP)

rs2301641

rs2301641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB5. Location: chromosome 7, position 20,698,270. The table records no clinical significance for this variant.

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Reference-table entries

ABCB5Not classified

Variant type: missense_variant
Chromosome / position: 7:20698270
HGVS: NM_001163941.2,c.1678A>G,p.Lys560Glu
Allele change: Missense_K560E

Associated conditions / phenotypes

Melanoma

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.