Variant (rsID / SNP)

rs150221689

rs150221689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,082,504. 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: 2:220082504
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)
Allele change: Missense_R192Q

Associated conditions / phenotypes

Microphthalmia, isolated, with coloboma 7|Variegate porphyria|Acute intermittent porphyria|Protoporphyria, erythropoietic, 1

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.