ClinVar

NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93998062 (on Assembly GRCh38)
• Chr1: 94463618 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=)

HGVS:

• NC_000001.11:g.93998062G>A
• NG_009073.1:g.128088C>T
• NG_009073.2:g.128086C>T
• NM_000350.3:c.6528C>TMANE SELECT
• NM_001425324.1:c.6306C>T
• NP_000341.2:p.Asp2176=
• NP_001412253.1:p.Asp2102=
• NC_000001.10:g.94463618G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs767917933

NCBI 1000 Genomes Browser:

rs767917933

Molecular consequence:

• NM_000350.3:c.6528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425324.1:c.6306C>T - synonymous variant - [Sequence Ontology: SO:0001819]