ClinVar

NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94060740 (on Assembly GRCh38)
• Chr1: 94526296 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)

HGVS:

• NC_000001.11:g.94060740G>A
• NG_009073.1:g.65410C>T
• NG_009073.2:g.65408C>T
• NM_000350.3:c.1957C>TMANE SELECT
• NM_001425324.1:c.1957C>T
• NP_000341.2:p.Arg653Cys
• NP_001412253.1:p.Arg653Cys
• NC_000001.10:g.94526296G>A
• NM_000350.2:c.1957C>T
• P78363:p.Arg653Cys

This HGVS expression did not pass validation

Protein change:

R653C

Links:

UniProtKB: P78363#VAR_012529; dbSNP: rs61749420

NCBI 1000 Genomes Browser:

rs61749420

Molecular consequence:

• NM_000350.3:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]