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.658-1G>T r.spl? p.? Maternal (confirmed) - pathogenic g.53245380C>A g.53216198C>A - - KDM5C_000027 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. - c.658-1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic g.53245380C>A g.53216198C>A - - KDM5C_000027 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 260079 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
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