ClinVar

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94005500 (on Assembly GRCh38)
• Chr1: 94471056 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

Other names:

NM_000350.3(ABCA4):c.6088C>T; p.Arg2030Ter; NP_000341.2:p.(Arg2030Ter)

HGVS:

• NC_000001.11:g.94005500G>A
• NG_009073.1:g.120650C>T
• NG_009073.2:g.120648C>T
• NM_000350.3:c.6088C>TMANE SELECT
• NM_001425324.1:c.5866C>T
• NP_000341.2:p.Arg2030Ter
• NP_001412253.1:p.Arg1956Ter
• NC_000001.10:g.94471056G>A
• NM_000350.2:c.6088C>T

This HGVS expression did not pass validation

Protein change:

R1956*; ARG2030TER

Links:

OMIM: 601691.0029; dbSNP: rs61751383

NCBI 1000 Genomes Browser:

rs61751383

Molecular consequence:

• NM_000350.3:c.6088C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001425324.1:c.5866C>T - nonsense - [Sequence Ontology: SO:0001587]