ClinVar

NM_022437.3(ABCG8):c.-15A>C

Genes:

ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 43839039 (on Assembly GRCh38)
• Chr2: 44066178 (on Assembly GRCh37)

Preferred name:

NM_022437.3(ABCG8):c.-15A>C

HGVS:

• NC_000002.12:g.43839039A>C
• NG_008883.1:g.4781T>G
• NG_008884.2:g.12098A>C
• NM_001357321.2:c.-15A>C
• NM_022437.3:c.-15A>CMANE SELECT
• LRG_1182t1:c.-15A>C
• LRG_1181:g.4781T>G
• LRG_1182:g.12098A>C
• NC_000002.11:g.44066178A>C
• NG_008884.1:g.5076A>C
• NM_022437.2:c.-15A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs72647315

NCBI 1000 Genomes Browser:

rs72647315

Molecular consequence:

• NM_001357321.2:c.-15A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_022437.3:c.-15A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]