Variant (rsID / SNP)

rs149363094

rs149363094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,078,564. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCB6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:220078564
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)
Allele change: Missense_T521S

Associated conditions / phenotypes

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

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.