ClinVar

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.32

Genomic location:

• Chr12: 88077263 (on Assembly GRCh38)
• Chr12: 88471040 (on Assembly GRCh37)

Preferred name:

NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)

HGVS:

• NC_000012.12:g.88077263C>A
• NG_008417.2:g.69954G>T
• NM_025114.4:c.5668G>TMANE SELECT
• NP_079390.3:p.Gly1890Ter
• NP_079390.3:p.Gly1890Ter
• LRG_694t1:c.5668G>T
• LRG_694:g.69954G>T
• LRG_694p1:p.Gly1890Ter
• NC_000012.11:g.88471040C>A
• NG_008417.1:g.69954G>T
• NM_025114.3:c.5668G>T
• NM_025114.3:c.[5668G>T]
• NP_079390.3:p.Gly1890*

This HGVS expression did not pass validation

Protein change:

G1890*; GLY1890TER

Links:

OMIM: 610142.0001; dbSNP: rs137852832

NCBI 1000 Genomes Browser:

rs137852832

Molecular consequence:

• NM_025114.4:c.5668G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1