ClinVar

NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94007722 (on Assembly GRCh38)
• Chr1: 94473278 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)

HGVS:

• NC_000001.11:g.94007722del
• NG_009073.1:g.118428del
• NG_009073.2:g.118426del
• NM_000350.3:c.5917delMANE SELECT
• NM_001425324.1:c.5695delG
• NP_000341.2:p.Gly1972_Val1973insTer
• NP_001412253.1:p.Val1899Terfs
• NC_000001.10:g.94473278del
• NM_000350.2:c.5917del
• NM_000350.2:c.5917delG
• NM_000350.3:c.5917delGMANE SELECT
• p.(Val1973*)

This HGVS expression did not pass validation

Links:

dbSNP: rs61751389

NCBI 1000 Genomes Browser:

rs61751389

Molecular consequence:

• NM_001425324.1:c.5695delG - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_000350.3:c.5917del - nonsense - [Sequence Ontology: SO:0001587]
• NM_001425324.1:c.5695delG - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1