ClinVar

NM_022436.3(ABCG5):c.510C>T (p.Ala170=)

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: 43828107 (on Assembly GRCh38)
• Chr2: 44055246 (on Assembly GRCh37)

Preferred name:

NM_022436.3(ABCG5):c.510C>T (p.Ala170=)

HGVS:

• NC_000002.12:g.43828107G>A
• NG_008883.1:g.15713C>T
• NG_008884.2:g.1166G>A
• NG_053008.1:g.59069G>A
• NM_001348912.2:c.*737G>A
• NM_001348913.2:c.*737G>A
• NM_022436.3:c.510C>TMANE SELECT
• NP_071881.1:p.Ala170=
• LRG_1181t1:c.510C>T
• LRG_1181:g.15713C>T
• LRG_1181p1:p.Ala170=
• LRG_1182:g.1166G>A
• NC_000002.11:g.44055246G>A
• NM_022436.2:c.510C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147061424

NCBI 1000 Genomes Browser:

rs147061424

Molecular consequence:

• NM_001348912.2:c.*737G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001348913.2:c.*737G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_022436.3:c.510C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2