ClinVar

NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)

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: 43828024 (on Assembly GRCh38)
• Chr2: 44055163 (on Assembly GRCh37)

Preferred name:

NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)

Other names:

p.Arg198Gln

HGVS:

• NC_000002.12:g.43828024C>T
• NG_008883.1:g.15796G>A
• NG_008884.2:g.1083C>T
• NG_053008.1:g.58986C>T
• NM_001348912.2:c.*654C>T
• NM_001348913.2:c.*654C>T
• NM_022436.3:c.593G>AMANE SELECT
• NP_071881.1:p.Arg198Gln
• LRG_1181t1:c.593G>A
• LRG_1181:g.15796G>A
• LRG_1181p1:p.Arg198Gln
• LRG_1182:g.1083C>T
• NC_000002.11:g.44055163C>T
• NM_022436.2:c.593G>A

This HGVS expression did not pass validation

Protein change:

R198Q

Links:

dbSNP: rs141828689

NCBI 1000 Genomes Browser:

rs141828689

Molecular consequence:

• NM_001348912.2:c.*654C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001348913.2:c.*654C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_022436.3:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]