ClinVar

NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 93996193 (on Assembly GRCh38)
• Chr1: 94461749 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)

Other names:

p.V2244V:GTG>GTA

HGVS:

• NC_000001.11:g.93996193C>T
• NG_009073.1:g.129957G>A
• NG_009073.2:g.129955G>A
• NM_000350.3:c.6732G>AMANE SELECT
• NM_001425324.1:c.6510G>A
• NP_000341.2:p.Val2244=
• NP_001412253.1:p.Val2170=
• NC_000001.10:g.94461749C>T
• NM_000350.2:c.6732G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs77293072

NCBI 1000 Genomes Browser:

rs77293072

Molecular consequence:

• NM_000350.3:c.6732G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425324.1:c.6510G>A - synonymous variant - [Sequence Ontology: SO:0001819]