ClinVar

NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94062691 (on Assembly GRCh38)
• Chr1: 94528247 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr)

HGVS:

• NC_000001.11:g.94062691A>T
• NG_009073.1:g.63459T>A
• NG_009073.2:g.63457T>A
• NM_000350.3:c.1823T>AMANE SELECT
• NM_001425324.1:c.1823T>A
• NP_000341.2:p.Phe608Tyr
• NP_001412253.1:p.Phe608Tyr
• NC_000001.10:g.94528247A>T
• NM_000350.2:c.1823T>A

This HGVS expression did not pass validation

Protein change:

F608Y

Links:

dbSNP: rs61752399

NCBI 1000 Genomes Browser:

rs61752399

Molecular consequence:

• NM_000350.3:c.1823T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.1823T>A - missense variant - [Sequence Ontology: SO:0001583]