ClinVar

NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 42292173 (on Assembly GRCh38)
• Chr19: 42796325 (on Assembly GRCh37)

Preferred name:

NM_001386298.1(CIC):c.5701C>T (p.Gln1901Ter)

HGVS:

• NC_000019.10:g.42292173C>T
• NG_042060.1:g.28637C>T
• NM_001304815.2:c.5701C>T
• NM_001379480.1:c.5701C>T
• NM_001379482.1:c.5701C>T
• NM_001379484.1:c.2974C>T
• NM_001379485.1:c.2974C>T
• NM_001386298.1:c.5701C>TMANE SELECT
• NM_015125.5:c.2974C>T
• NP_001291744.1:p.Gln1901Ter
• NP_001366409.1:p.Gln1901Ter
• NP_001366411.1:p.Gln1901Ter
• NP_001366413.1:p.Gln992Ter
• NP_001366414.1:p.Gln992Ter
• NP_001373227.1:p.Gln1901Ter
• NP_055940.3:p.Gln992Ter
• NP_055940.3:p.Gln992Ter
• LRG_999t1:c.2974C>T
• LRG_999:g.28637C>T
• LRG_999p1:p.Gln992Ter
• NC_000019.9:g.42796325C>T
• NM_015125.3:c.2974C>T
• NM_015125.4:c.2974C>T

This HGVS expression did not pass validation

Protein change:

Q1901*; GLN992TER

Links:

OMIM: 612082.0004; dbSNP: rs1135401825

NCBI 1000 Genomes Browser:

rs1135401825

Molecular consequence:

• NM_001304815.2:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001379480.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001379482.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001379484.1:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001379485.1:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001386298.1:c.5701C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_015125.5:c.2974C>T - nonsense - [Sequence Ontology: SO:0001587]