ClinVar

NM_001386298.1(CIC):c.7519C>T (p.Pro2507Ser)

Gene:

CIC:capicua transcriptional repressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Preferred name:

NM_001386298.1(CIC):c.7519C>T (p.Pro2507Ser)

HGVS:

• NC_000019.10:g.42295156C>T
• NG_042060.1:g.31620C>T
• NM_001304815.2:c.7519C>T
• NM_001379480.1:c.7516C>T
• NM_001379482.1:c.7516C>T
• NM_001379484.1:c.4786C>T
• NM_001379485.1:c.4783C>T
• NM_001386298.1:c.7519C>TMANE SELECT
• NM_015125.5:c.4792C>T
• NP_001291744.1:p.Pro2507Ser
• NP_001291744.1:p.Pro2507Ser
• NP_001366409.1:p.Pro2506Ser
• NP_001366411.1:p.Pro2506Ser
• NP_001366413.1:p.Pro1596Ser
• NP_001366414.1:p.Pro1595Ser
• NP_001373227.1:p.Pro2507Ser
• NP_055940.3:p.Pro1598Ser
• NP_055940.3:p.Pro1598Ser
• LRG_999t1:c.4792C>T
• LRG_999t2:c.7519C>T
• LRG_999:g.31620C>T
• LRG_999p1:p.Pro1598Ser
• LRG_999p2:p.Pro2507Ser
• NC_000019.9:g.42799308C>T
• NM_001304815.1:c.7519C>T
• NM_015125.3:c.4792C>T
• NM_015125.4:c.4792C>T

This HGVS expression did not pass validation

Protein change:

P1595S

Molecular consequence:

• NM_001304815.2:c.7519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379480.1:c.7516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379482.1:c.7516C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379484.1:c.4786C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379485.1:c.4783C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386298.1:c.7519C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015125.5:c.4792C>T - missense variant - [Sequence Ontology: SO:0001583]