ClinVar

NM_000541.5(SAG):c.1207G>A (p.Val403Ile)

Gene:

SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 233346901 (on Assembly GRCh38)
• Chr2: 234255547 (on Assembly GRCh37)

Preferred name:

NM_000541.5(SAG):c.1207G>A (p.Val403Ile)

HGVS:

• NC_000002.12:g.233346901G>A
• NG_009116.1:g.44239G>A
• NM_000541.5:c.1207G>AMANE SELECT
• NP_000532.2:p.Val403Ile
• NC_000002.11:g.234255547G>A
• NM_000541.4:c.1207G>A
• P10523:p.Val403Ile

This HGVS expression did not pass validation

Protein change:

V403I

Links:

UniProtKB: P10523#VAR_033524; dbSNP: rs1046974

NCBI 1000 Genomes Browser:

rs1046974

Molecular consequence:

• NM_000541.5:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1