ClinVar

NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys)

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: 43823917 (on Assembly GRCh38)
• Chr2: 44051056 (on Assembly GRCh37)

Preferred name:

NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys)

HGVS:

• NC_000002.12:g.43823917A>T
• NG_008883.1:g.19903T>A
• NG_053008.1:g.54879A>T
• NM_001348912.2:c.*16-3469A>T
• NM_001348913.2:c.*16-3469A>T
• NM_022436.3:c.1320T>AMANE SELECT
• NP_071881.1:p.Asn440Lys
• LRG_1181t1:c.1320T>A
• LRG_1181:g.19903T>A
• LRG_1181p1:p.Asn440Lys
• NC_000002.11:g.44051056A>T

This HGVS expression did not pass validation

Protein change:

N440K

Links:

dbSNP: rs150002815

NCBI 1000 Genomes Browser:

rs150002815

Molecular consequence:

• NM_001348912.2:c.*16-3469A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348913.2:c.*16-3469A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022436.3:c.1320T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2