ClinVar

NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94060728 (on Assembly GRCh38)
• Chr1: 94526284 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val)

HGVS:

• NC_000001.11:g.94060728T>C
• NG_009073.1:g.65422A>G
• NG_009073.2:g.65420A>G
• NM_000350.3:c.1969A>GMANE SELECT
• NM_001425324.1:c.1969A>G
• NP_000341.2:p.Ile657Val
• NP_001412253.1:p.Ile657Val
• NC_000001.10:g.94526284T>C

This HGVS expression did not pass validation

Protein change:

I657V

Links:

dbSNP: rs199590367

NCBI 1000 Genomes Browser:

rs199590367

Molecular consequence:

• NM_000350.3:c.1969A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.1969A>G - missense variant - [Sequence Ontology: SO:0001583]