ClinVar

NM_016122.3(CEP83):c.1419+17G>T

Gene:

CEP83:centrosomal protein 83 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q22

Genomic location:

• Chr12: 94335572 (on Assembly GRCh38)
• Chr12: 94729348 (on Assembly GRCh37)

Preferred name:

NM_016122.3(CEP83):c.1419+17G>T

HGVS:

• NC_000012.12:g.94335572C>A
• NG_051825.1:g.129417G>T
• NG_051825.2:g.129882G>T
• NM_001042399.2:c.1419+17G>T
• NM_001346457.2:c.1419+17G>T
• NM_001346458.2:c.1107+17G>T
• NM_001346459.2:c.1107+17G>T
• NM_001368037.1:c.1419+17G>T
• NM_001368038.1:c.1419+17G>T
• NM_001368039.1:c.1107+17G>T
• NM_001368040.1:c.1107+17G>T
• NM_001368041.1:c.1194+17G>T
• NM_016122.3:c.1419+17G>TMANE SELECT
• NC_000012.11:g.94729348C>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001042399.2:c.1419+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346457.2:c.1419+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346458.2:c.1107+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001346459.2:c.1107+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368037.1:c.1419+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368038.1:c.1419+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368039.1:c.1107+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368040.1:c.1107+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368041.1:c.1194+17G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016122.3:c.1419+17G>T - intron variant - [Sequence Ontology: SO:0001627]