ClinVar

NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94041365 (on Assembly GRCh38)
• Chr1: 94506921 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp)

HGVS:

• NC_000001.11:g.94041365C>G
• NG_009073.1:g.84785G>C
• NG_009073.2:g.84783G>C
• NM_000350.3:c.3366G>CMANE SELECT
• NM_001425324.1:c.3144G>C
• NP_000341.2:p.Glu1122Asp
• NP_001412253.1:p.Glu1048Asp
• NC_000001.10:g.94506921C>G
• NM_000350.2:c.3366G>C

This HGVS expression did not pass validation

Protein change:

E1048D

Links:

dbSNP: rs61750123

NCBI 1000 Genomes Browser:

rs61750123

Molecular consequence:

• NM_000350.3:c.3366G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.3144G>C - missense variant - [Sequence Ontology: SO:0001583]