ClinVar

NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)

Genes:

ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
LOC126805793:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94021339 (on Assembly GRCh38)
• Chr1: 94486895 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)

HGVS:

• NC_000001.11:g.94021339C>T
• NG_009073.1:g.104811G>A
• NG_009073.2:g.104809G>A
• NG_082117.1:g.694C>T
• NM_000350.3:c.4919G>AMANE SELECT
• NM_001425324.1:c.4697G>A
• NP_000341.2:p.Arg1640Gln
• NP_001412253.1:p.Arg1566Gln
• NC_000001.10:g.94486895C>T
• NM_000350.2:c.4919G>A
• P78363:p.Arg1640Gln

This HGVS expression did not pass validation

Protein change:

R1566Q

Links:

UniProtKB: P78363#VAR_012583; dbSNP: rs61751403

NCBI 1000 Genomes Browser:

rs61751403

Molecular consequence:

• NM_000350.3:c.4919G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.4697G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071]