ClinVar

NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)

Gene:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94008251 (on Assembly GRCh38)
• Chr1: 94473807 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)

HGVS:

• NC_000001.11:g.94008251C>T
• NG_009073.1:g.117899G>A
• NG_009073.2:g.117897G>A
• NM_000350.3:c.5882G>AMANE SELECT
• NM_001425324.1:c.5660G>A
• NP_000341.2:p.Gly1961Glu
• NP_000341.2:p.Gly1961Glu
• NP_001412253.1:p.Gly1887Glu
• NC_000001.10:g.94473807C>T
• NM_000350.2:c.5882G>A
• P78363:p.Gly1961Glu

This HGVS expression did not pass validation

Protein change:

G1887E; GLY1961GLU

Links:

UniProtKB: P78363#VAR_008475; OMIM: 601691.0007; dbSNP: rs1800553

NCBI 1000 Genomes Browser:

rs1800553

Molecular consequence:

• NM_000350.3:c.5882G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.5660G>A - missense variant - [Sequence Ontology: SO:0001583]