Full data view for gene KDM5C

Information The variants shown are described using the NM_004187.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/? 13 c.1764G>A r.(?) p.(=) Parent #1 - likely benign g.53231138C>T g.53201956C>T Q588Q - KDM5C_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377122-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.1764G>A r.(?) p.(Gln588=) Unknown - benign g.53231138C>T g.53201956C>T KDM5C(NM_004187.3):c.1764G>A (p.Q588=), KDM5C(NM_004187.4):c.1764G>A (p.Q588=) - KDM5C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1764G>A r.(?) p.(Gln588=) Unknown - likely benign g.53231138C>T g.53201956C>T KDM5C(NM_004187.3):c.1764G>A (p.Q588=), KDM5C(NM_004187.4):c.1764G>A (p.Q588=) - KDM5C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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