ClinVar

NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94062689 (on Assembly GRCh38)
• Chr1: 94528245 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro)

HGVS:

• NC_000001.11:g.94062689C>G
• NG_009073.1:g.63461G>C
• NG_009073.2:g.63459G>C
• NM_000350.3:c.1825G>CMANE SELECT
• NM_001425324.1:c.1825G>C
• NP_000341.2:p.Ala609Pro
• NP_001412253.1:p.Ala609Pro
• NC_000001.10:g.94528245C>G
• NM_000350.2:c.1825G>C

This HGVS expression did not pass validation

Protein change:

A609P

Links:

dbSNP: rs2101078330

NCBI 1000 Genomes Browser:

rs2101078330

Molecular consequence:

• NM_000350.3:c.1825G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.1825G>C - missense variant - [Sequence Ontology: SO:0001583]