ClinVar

NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

Gene:

RPE65:retinoid isomerohydrolase RPE65 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 68444825 (on Assembly GRCh38)
• Chr1: 68910508 (on Assembly GRCh37)

Preferred name:

NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

HGVS:

• NC_000001.11:g.68444825C>T
• NG_008472.1:g.10135G>A
• NG_008472.2:g.10135G>A
• NM_000329.3:c.304G>AMANE SELECT
• NP_000320.1:p.Glu102Lys
• NC_000001.10:g.68910508C>T
• NM_000329.2:c.304G>A
• Q16518:p.Glu102Lys

This HGVS expression did not pass validation

Protein change:

E102K

Links:

UniProtKB: Q16518#VAR_060812; dbSNP: rs62642584

NCBI 1000 Genomes Browser:

rs62642584

Molecular consequence:

• NM_000329.3:c.304G>A - missense variant - [Sequence Ontology: SO:0001583]