ClinVar

NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94055138 (on Assembly GRCh38)
• Chr1: 94520694 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)

HGVS:

• NC_000001.11:g.94055138C>T
• NG_009073.1:g.71012G>A
• NG_009073.2:g.71010G>A
• NM_000350.3:c.2560G>AMANE SELECT
• NM_001425324.1:c.2338G>A
• NP_000341.2:p.Ala854Thr
• NP_001412253.1:p.Ala780Thr
• NC_000001.10:g.94520694C>T
• NM_000350.2:c.2560G>A
• P78363:p.Ala854Thr

This HGVS expression did not pass validation

Protein change:

A780T

Links:

UniProtKB: P78363#VAR_012539; dbSNP: rs61749437

NCBI 1000 Genomes Browser:

rs61749437

Molecular consequence:

• NM_000350.3:c.2560G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.2338G>A - missense variant - [Sequence Ontology: SO:0001583]