ClinVar

NM_022436.3(ABCG5):c.1763-18C>T

Genes:

ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 43813327 (on Assembly GRCh38)
• Chr2: 44040466 (on Assembly GRCh37)

Preferred name:

NM_022436.3(ABCG5):c.1763-18C>T

HGVS:

• NC_000002.12:g.43813327G>A
• NG_008883.1:g.30493C>T
• NG_053008.1:g.44289G>A
• NM_001348912.2:c.*15+2803G>A
• NM_001348913.2:c.*15+2803G>A
• NM_022436.3:c.1763-18C>TMANE SELECT
• LRG_1181t1:c.1763-18C>T
• LRG_1181:g.30493C>T
• NC_000002.11:g.44040466G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001348912.2:c.*15+2803G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348913.2:c.*15+2803G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_022436.3:c.1763-18C>T - intron variant - [Sequence Ontology: SO:0001627]