ClinVar

NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)

Gene:

CDK13:cyclin dependent kinase 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.1

Genomic location:

• Chr7: 40093051 (on Assembly GRCh38)
• Chr7: 40132650 (on Assembly GRCh37)

Preferred name:

NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)

HGVS:

• NC_000007.14:g.40093051C>T
• NG_052965.1:g.147692C>T
• NG_052965.2:g.147797C>T
• NM_003718.5:c.3502C>TMANE SELECT
• NM_031267.3:c.3322C>T
• NP_003709.3:p.Pro1168Ser
• NP_112557.2:p.Pro1108Ser
• NC_000007.13:g.40132650C>T

This HGVS expression did not pass validation

Protein change:

P1108S

Molecular consequence:

• NM_003718.5:c.3502C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031267.3:c.3322C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1