Variant (rsID / SNP)

rs57467915

rs57467915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,081,416. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCB6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220081416
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)
Allele change: Missense_R276W

Associated conditions / phenotypes

Acute intermittent porphyria|Protoporphyria, erythropoietic, 1|Variegate porphyria|Hereditary coproporphyria

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.