ClinVar

NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 43875302 (on Assembly GRCh38)
• Chr2: 44102441 (on Assembly GRCh37)

Preferred name:

NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)

HGVS:

• NC_000002.12:g.43875302G>A
• NG_008884.2:g.48361G>A
• NM_001357321.2:c.1642G>A
• NM_022437.3:c.1645G>AMANE SELECT
• NP_001344250.1:p.Ala548Thr
• NP_071882.1:p.Ala549Thr
• LRG_1182t1:c.1645G>A
• LRG_1182:g.48361G>A
• LRG_1182p1:p.Ala549Thr
• NC_000002.11:g.44102441G>A
• NG_008884.1:g.41339G>A
• NM_022437.2:c.1645G>A

This HGVS expression did not pass validation

Protein change:

A548T

Links:

dbSNP: rs140690030

NCBI 1000 Genomes Browser:

rs140690030

Molecular consequence:

• NM_001357321.2:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022437.3:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1