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     
+/. 11 c.1049T>C r.(?) p.(Met350Thr) PUA Parent #1 - pathogenic g.154001418T>C g.154773143T>C - - DKC1_000017 submitted through SIB; ExPASy_010083 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR031 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1049T>C r.(?) p.(Met350Thr) - Parent #1 - pathogenic g.154001418T>C g.154773143T>C - - DKC1_000017 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-091 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
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