ClinVar

NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94060708 (on Assembly GRCh38)
• Chr1: 94526264 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter)

HGVS:

• NC_000001.11:g.94060708C>T
• NG_009073.1:g.65442G>A
• NG_009073.2:g.65440G>A
• NM_000350.3:c.1989G>AMANE SELECT
• NM_001425324.1:c.1989G>A
• NP_000341.2:p.Trp663Ter
• NP_001412253.1:p.Trp663Ter
• NC_000001.10:g.94526264C>T
• NM_000350.2:c.1989G>A

This HGVS expression did not pass validation

Protein change:

W663*

Links:

dbSNP: rs61749421

NCBI 1000 Genomes Browser:

rs61749421

Molecular consequence:

• NM_000350.3:c.1989G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001425324.1:c.1989G>A - nonsense - [Sequence Ontology: SO:0001587]