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Variant (rsID / SNP)

rs149202834

ABCB6

rs149202834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,082,505. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCB6Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:220082505
Cytoband
2q35
HGVS
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)
Allele change
Missense_R192W

Associated conditions / phenotypes

Langereis blood group|Acute intermittent porphyria|Protoporphyria, erythropoietic, 1|Variegate porphyria|Hereditary coproporphyria

Public references

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