ClinVar

NM_032898.5(CEP19):c.131-10T>C

Gene:

CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 196707922 (on Assembly GRCh38)
• Chr3: 196434793 (on Assembly GRCh37)

Preferred name:

NM_032898.5(CEP19):c.131-10T>C

HGVS:

• NC_000003.12:g.196707922A>G
• NG_034109.1:g.9373T>C
• NM_001379468.1:c.26-10T>C
• NM_001379469.1:c.131-10T>C
• NM_001379470.1:c.131-10T>C
• NM_032898.5:c.131-10T>CMANE SELECT
• NC_000003.11:g.196434793A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1711589012

NCBI 1000 Genomes Browser:

rs1711589012

Molecular consequence:

• NM_001379468.1:c.26-10T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379469.1:c.131-10T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379470.1:c.131-10T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_032898.5:c.131-10T>C - intron variant - [Sequence Ontology: SO:0001627]