Full data view for gene KDM5C

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/. - c.1795C>T r.(?) p.(Arg599Cys) Maternal (confirmed) ACMG likely pathogenic g.53231107G>A g.53201925G>A - - KDM5C_000116 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 277981 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+/. 13 c.1795C>T r.(?) p.(Arg599Cys) Unknown ACMG pathogenic g.53231107G>A - - - KDM5C_000116 - Leonardi 2022, submitted VCV000559937 - De novo - - - - XCI skewed (86%/14%) DNA SEQ-NG-IT - Gene panel MRXSCJ PD-3597 Leonardi 2022, submitted Diagnosed by Molecular Genetics of Neurodevelopment, Dept. of Women's and Children's Health, University of Padova, Italy F no Italy - - 0 - - 1 Emanuela Leonardi
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