ClinVar

NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94060674 (on Assembly GRCh38)
• Chr1: 94526230 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)

HGVS:

• NC_000001.11:g.94060674C>T
• NG_009073.1:g.65476G>A
• NG_009073.2:g.65474G>A
• NM_000350.3:c.2023G>AMANE SELECT
• NM_001425324.1:c.2023G>A
• NP_000341.2:p.Val675Ile
• NP_001412253.1:p.Val675Ile
• NC_000001.10:g.94526230C>T
• NM_000350.2:c.2023G>A

This HGVS expression did not pass validation

Protein change:

V675I

Links:

dbSNP: rs575453437

NCBI 1000 Genomes Browser:

rs575453437

Molecular consequence:

• NM_000350.3:c.2023G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.2023G>A - missense variant - [Sequence Ontology: SO:0001583]