ClinVar

NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94008290 (on Assembly GRCh38)
• Chr1: 94473846 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)

Other names:

p.P1948L:CCA>CTA

HGVS:

• NC_000001.11:g.94008290G>A
• NG_009073.1:g.117860C>T
• NG_009073.2:g.117858C>T
• NM_000350.3:c.5843C>TMANE SELECT
• NM_001425324.1:c.5621C>T
• NP_000341.2:p.Pro1948Leu
• NP_001412253.1:p.Pro1874Leu
• NC_000001.10:g.94473846G>A
• NM_000350.2:c.5843C>T
• P78363:p.Pro1948Leu

This HGVS expression did not pass validation

Protein change:

P1874L

Links:

UniProtKB: P78363#VAR_008474; dbSNP: rs56142141

NCBI 1000 Genomes Browser:

rs56142141

Molecular consequence:

• NM_000350.3:c.5843C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.5621C>T - missense variant - [Sequence Ontology: SO:0001583]