ClinVar

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 68431371 (on Assembly GRCh38)
• Chr1: 68897054 (on Assembly GRCh37)

Preferred name:

NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)

Other names:

NM_000329.3(RPE65):c.1249G>C

HGVS:

• NC_000001.11:g.68431371C>G
• NG_008472.2:g.23589G>C
• NM_000329.3:c.1249G>CMANE SELECT
• NP_000320.1:p.Glu417Gln
• NC_000001.10:g.68897054C>G
• NG_008472.1:g.23589G>C
• NM_000329.2:c.1249G>C
• Q16518:p.Glu417Gln

This HGVS expression did not pass validation

Protein change:

E417Q

Links:

UniProtKB: Q16518#VAR_017141; dbSNP: rs62636299

NCBI 1000 Genomes Browser:

rs62636299

Molecular consequence:

• NM_000329.3:c.1249G>C - missense variant - [Sequence Ontology: SO:0001583]