ClinVar

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94024994 (on Assembly GRCh38)
• Chr1: 94490550 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

HGVS:

• NC_000001.11:g.94024994C>T
• NG_009073.1:g.101156G>A
• NG_009073.2:g.101154G>A
• NM_000350.3:c.4594G>AMANE SELECT
• NM_001425324.1:c.4372G>A
• NP_000341.2:p.Asp1532Asn
• NP_001412253.1:p.Asp1458Asn
• NC_000001.10:g.94490550C>T
• NM_000350.2:c.4594G>A
• P78363:p.Asp1532Asn

This HGVS expression did not pass validation

Protein change:

D1458N

Links:

UniProtKB: P78363#VAR_008457; dbSNP: rs62642574

NCBI 1000 Genomes Browser:

rs62642574

Molecular consequence:

• NM_000350.3:c.4594G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]