Variant (rsID / SNP)

rs118109635

rs118109635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,801,131. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCB11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:169801131
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
Allele change: Missense_A865V

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2

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.