ClinVar

NM_000350.3(ABCA4):c.1894del (p.Ile632fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94062620 (on Assembly GRCh38)
• Chr1: 94528176 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.1894del (p.Ile632fs)

HGVS:

• NC_000001.11:g.94062621del
• NG_009073.1:g.63530del
• NG_009073.2:g.63528del
• NM_000350.3:c.1894delMANE SELECT
• NM_001425324.1:c.1893delA
• NP_000341.2:p.Ile632fs
• NP_001412253.1:p.Ile632Serfs
• NC_000001.10:g.94528177del
• NM_000350.2:c.1894delA

This HGVS expression did not pass validation

Protein change:

I632fs

Links:

dbSNP: rs61749413

NCBI 1000 Genomes Browser:

rs61749413

Molecular consequence:

• NM_000350.3:c.1894del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001425324.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]