ClinVar

NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)

Genes:

RLIG1:RNA 5'-phosphate and 3'-OH ligase 1 [Gene - HGNC]
CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.32

Genomic location:

• Chr12: 88049252 (on Assembly GRCh38)
• Chr12: 88443029 (on Assembly GRCh37)

Preferred name:

NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)

HGVS:

• NC_000012.12:g.88049252T>C
• NG_008417.2:g.97965A>G
• NM_001009894.3:c.*830T>CMANE SELECT
• NM_025114.4:c.7372A>GMANE SELECT
• NP_079390.3:p.Ser2458Gly
• LRG_694t1:c.7372A>G
• LRG_694:g.97965A>G
• LRG_694p1:p.Ser2458Gly
• NC_000012.11:g.88443029T>C
• NC_000012.11:g.88443029T>C
• NM_025114.3:c.7372A>G

This HGVS expression did not pass validation

Protein change:

S2458G

Links:

dbSNP: rs762238709

NCBI 1000 Genomes Browser:

rs762238709

Molecular consequence:

• NM_001009894.3:c.*830T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_025114.4:c.7372A>G - missense variant - [Sequence Ontology: SO:0001583]