ClinVar

NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu)

Gene:

CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.2

Genomic location:

• Chr9: 78254857 (on Assembly GRCh38)
• Chr9: 80869773 (on Assembly GRCh37)

Preferred name:

NM_001330691.3(CEP78):c.1273G>C (p.Val425Leu)

HGVS:

• NC_000009.12:g.78254857G>C
• NG_053171.1:g.23796G>C
• NM_001098802.3:c.1276G>C
• NM_001330691.3:c.1273G>CMANE SELECT
• NM_001330693.3:c.1273G>C
• NM_001330694.2:c.1273G>C
• NM_001349838.2:c.1273G>C
• NM_001349839.2:c.1276G>C
• NM_001349840.2:c.1276G>C
• NM_032171.3:c.1276G>C
• NP_001092272.1:p.Val426Leu
• NP_001317620.1:p.Val425Leu
• NP_001317622.1:p.Val425Leu
• NP_001317623.1:p.Val425Leu
• NP_001336767.1:p.Val425Leu
• NP_001336768.1:p.Val426Leu
• NP_001336769.1:p.Val426Leu
• NP_115547.1:p.Val426Leu
• NC_000009.11:g.80869773G>C
• NM_001098802.1:c.1276G>C

This HGVS expression did not pass validation

Protein change:

V425L

Links:

dbSNP: rs375721961

NCBI 1000 Genomes Browser:

rs375721961

Molecular consequence:

• NM_001098802.3:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330691.3:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330693.3:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330694.2:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349838.2:c.1273G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349839.2:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349840.2:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032171.3:c.1276G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1