Full data view for gene DKC1

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/. 4 c.196A>G r.(?) p.(Thr66Ala) - Both (homozygous) - VUS g.153994206A>G g.154765931A>G - - DKC1_000014 - - - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. 4 c.196A>G r.(?) p.(Thr66Ala) - Parent #1 - pathogenic g.153994206A>G g.154765931A>G - - DKC1_000014 submitted through SIB; ExPASy_010080 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamNIMGS515 PubMed: Knight 1999 - - - United States - - 0 - - 1 SIB - Livia Famiglietti
+/. 4 c.196A>G r.(?) p.(Thr66Ala) - Parent #1 - pathogenic g.153994206A>G g.154765931A>G - - DKC1_000014 data copied from the Telomerase database PubMed: Hassock 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Hassock 1999 - - - - - - 0 - - 1 Johan den Dunnen
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