ClinVar

NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94010832 (on Assembly GRCh38)
• Chr1: 94476388 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)

Other names:

p.L1894L:CTG>CTC

HGVS:

• NC_000001.11:g.94010832C>G
• NG_009073.1:g.115318G>C
• NG_009073.2:g.115316G>C
• NM_000350.3:c.5682G>CMANE SELECT
• NM_001425324.1:c.5460G>C
• NP_000341.2:p.Leu1894=
• NP_001412253.1:p.Leu1820=
• NC_000001.10:g.94476388C>G
• NM_000350.2:c.5682G>C
• p.Leu1894Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs1801574

NCBI 1000 Genomes Browser:

rs1801574

Molecular consequence:

• NM_000350.3:c.5682G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001425324.1:c.5460G>C - synonymous variant - [Sequence Ontology: SO:0001819]