ClinVar

NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.1

Genomic location:

• Chr1: 94043339 (on Assembly GRCh38)
• Chr1: 94508895 (on Assembly GRCh37)

Preferred name:

NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)

HGVS:

• NC_000001.11:g.94043339A>G
• NG_009073.1:g.82811T>C
• NG_009073.2:g.82809T>C
• NM_000350.3:c.3187T>CMANE SELECT
• NM_001425324.1:c.2965T>C
• NP_000341.2:p.Ser1063Pro
• NP_001412253.1:p.Ser989Pro
• NC_000001.10:g.94508895A>G
• NM_000350.2:c.3187T>C
• P78363:p.Ser1063Pro

This HGVS expression did not pass validation

Protein change:

S1063P

Links:

UniProtKB: P78363#VAR_012558; dbSNP: rs61752413

NCBI 1000 Genomes Browser:

rs61752413

Molecular consequence:

• NM_000350.3:c.3187T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001425324.1:c.2965T>C - missense variant - [Sequence Ontology: SO:0001583]