ClinVar

NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93997981 (on Assembly GRCh38)
• Chr1: 94463537 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)

HGVS:

• NC_000001.11:g.93997981G>T
• NG_009073.1:g.128169C>A
• NG_009073.2:g.128167C>A
• NM_000350.3:c.6609C>AMANE SELECT
• NM_001425324.1:c.6387C>A
• NP_000341.2:p.Tyr2203Ter
• NP_001412253.1:p.Tyr2129Ter
• NC_000001.10:g.94463537G>T
• NM_000350.2:c.6609C>A

This HGVS expression did not pass validation

Protein change:

Y2129*

Links:

dbSNP: rs61753045

NCBI 1000 Genomes Browser:

rs61753045

Molecular consequence:

• NM_000350.3:c.6609C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001425324.1:c.6387C>A - nonsense - [Sequence Ontology: SO:0001587]