ClinVar

NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)

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: 43824062 (on Assembly GRCh38)
• Chr2: 44051201 (on Assembly GRCh37)

Preferred name:

NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)

HGVS:

• NC_000002.12:g.43824062T>G
• NG_008883.1:g.19758A>C
• NG_053008.1:g.55024T>G
• NM_001348912.2:c.*16-3324T>G
• NM_001348913.2:c.*16-3324T>G
• NM_022436.3:c.1175A>CMANE SELECT
• NP_071881.1:p.Gln392Pro
• LRG_1181t1:c.1175A>C
• LRG_1181:g.19758A>C
• LRG_1181p1:p.Gln392Pro
• NC_000002.11:g.44051201T>G
• NM_022436.2:c.1175A>C

This HGVS expression did not pass validation

Protein change:

Q392P

Molecular consequence:

• NM_001348912.2:c.*16-3324T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348913.2:c.*16-3324T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_022436.3:c.1175A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1