ClinVar

NM_001386298.1(CIC):c.7387G>A (p.Ala2463Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 42295024 (on Assembly GRCh38)
• Chr19: 42799176 (on Assembly GRCh37)

Preferred name:

NM_001386298.1(CIC):c.7387G>A (p.Ala2463Thr)

HGVS:

• NC_000019.10:g.42295024G>A
• NG_042060.1:g.31488G>A
• NM_001304815.2:c.7387G>A
• NM_001379480.1:c.7384G>A
• NM_001379482.1:c.7384G>A
• NM_001379484.1:c.4654G>A
• NM_001379485.1:c.4651G>A
• NM_001386298.1:c.7387G>AMANE SELECT
• NM_015125.3:c.4660G>A
• NM_015125.5:c.4660G>A
• NP_001291744.1:p.Ala2463Thr
• NP_001366409.1:p.Ala2462Thr
• NP_001366411.1:p.Ala2462Thr
• NP_001366413.1:p.Ala1552Thr
• NP_001366414.1:p.Ala1551Thr
• NP_001373227.1:p.Ala2463Thr
• NP_055940.3:p.Ala1554Thr
• LRG_999t2:c.7387G>A
• LRG_999:g.31488G>A
• NC_000019.9:g.42799176G>A
• NM_001304815.1:c.7387G>A

This HGVS expression did not pass validation

Protein change:

A1551T

Links:

dbSNP: rs762480443

NCBI 1000 Genomes Browser:

rs762480443

Molecular consequence:

• NM_001304815.2:c.7387G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379480.1:c.7384G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379482.1:c.7384G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379484.1:c.4654G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379485.1:c.4651G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386298.1:c.7387G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015125.5:c.4660G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1