ClinVar

NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94047039 (on Assembly GRCh38)
• Chr1: 94512595 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)

HGVS:

• NC_000001.11:g.94047039T>A
• NG_009073.1:g.79111A>T
• NG_009073.2:g.79109A>T
• NM_000350.3:c.2798A>TMANE SELECT
• NM_001425324.1:c.2576A>T
• NP_000341.2:p.Asn933Ile
• NP_001412253.1:p.Asn859Ile
• NC_000001.10:g.94512595T>A
• NM_000350.2:c.2798A>T

This HGVS expression did not pass validation

Protein change:

N859I

Links:

dbSNP: rs527236129

NCBI 1000 Genomes Browser:

rs527236129

Molecular consequence:

• NM_000350.3:c.2798A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.2576A>T - missense variant - [Sequence Ontology: SO:0001583]