ClinVar

NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93997869 (on Assembly GRCh38)
• Chr1: 94463425 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)

Other names:

NP_000341.2:p.(Leu2241Val)

HGVS:

• NC_000001.11:g.93997869G>C
• NG_009073.1:g.128281C>G
• NG_009073.2:g.128279C>G
• NM_000350.3:c.6721C>GMANE SELECT
• NM_001425324.1:c.6499C>G
• NP_000341.2:p.Leu2241Val
• NP_001412253.1:p.Leu2167Val
• NC_000001.10:g.94463425G>C
• NM_000350.2:c.6721C>G
• P78363:p.Leu2241Val

This HGVS expression did not pass validation

Protein change:

L2167V

Links:

UniProtKB: P78363#VAR_012616; dbSNP: rs61748521

NCBI 1000 Genomes Browser:

rs61748521

Molecular consequence:

• NM_000350.3:c.6721C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.6499C>G - missense variant - [Sequence Ontology: SO:0001583]