rs56140811

This variant is located in the ABCG1 gene.

▶

ClinVar annotation

Benign
2 submitters

ABCG1-related disorder; Uterine corpus endometrial carcinoma; Cervical cancer; Colon adenocarcinoma; Sarcoma; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Uterine carcinosarcoma; Melanoma; Acute myeloid leukemia; Hepatocellular carcinoma; Uveal melanoma; Colorectal cancer; Nonpapillary renal cell carcinoma; Lung cancer

View on ClinVar →

About ABCG1

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]

View all ABCG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…