Full data view for gene DKC1

Information The variants shown are described using the NM_001363.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+/. 10 c.965G>A r.(?) p.(Arg322Gln) - Parent #1 - pathogenic g.153999083G>A g.154770808G>A - - DKC1_000007 submitted through SIB; ExPASy_063824 PubMed: Rostamiani 2010 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 19879169-Pat PubMed: Rostamiani 2010 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 10 c.965G>A r.(?) p.(Arg322Gln) PUA Parent #1 - pathogenic g.153999083G>A g.154770808G>A - - DKC1_000007 data copied from the Telomerase database PubMed: Marrone 2003 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 12737310-Pat PubMed: Marrone 2003 - - - - - - 0 - - 1 Johan den Dunnen
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