All variants in the KDM5C gene

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 14 c.2047del r.(?) p.(Ala683Profs*81) - pathogenic g.53230747del g.53201565del - - KDM5C_000013 healthy mother skewed X-inactivation (98:2). PubMed: Tzschach 2015 - - Germline yes - - 0 - Andreas Tzschach
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