ClinVar

NM_022437.3(ABCG8):c.1965G>C (p.Met655Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 43877856 (on Assembly GRCh38)
• Chr2: 44104995 (on Assembly GRCh37)

Preferred name:

NM_022437.3(ABCG8):c.1965G>C (p.Met655Ile)

HGVS:

• NC_000002.12:g.43877856G>C
• NG_008884.2:g.50915G>C
• NM_001357321.2:c.1962G>C
• NM_022437.3:c.1965G>CMANE SELECT
• NP_001344250.1:p.Met654Ile
• NP_071882.1:p.Met655Ile
• LRG_1182t1:c.1965G>C
• LRG_1182:g.50915G>C
• LRG_1182p1:p.Met655Ile
• NC_000002.11:g.44104995G>C

This HGVS expression did not pass validation

Protein change:

M654I

Molecular consequence:

• NM_001357321.2:c.1962G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022437.3:c.1965G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1