Full data view for gene DKC1

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

17 entries on 1 page. Showing entries 1 - 17.
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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.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Ding 2004 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 15304085-Pat PubMed: Ding 2004 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1058C>T r.(?) p.(Ala353Val) PUA Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 submitted through SIB; ExPASy_009264 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR004 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 SIB - Livia Famiglietti
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-035 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-062 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-065 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 not in 100 control chromosomes PubMed: Knight 2001 - - Germline - - - 0 - DNA SSCA, SEQ - - DKCX;HHS 11379875-PatDCR-066 PubMed: Knight 2001 - M - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR005 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR006 PubMed: Knight 1999 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR020 PubMed: Knight 1999 - - - France - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR029 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR030 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR044 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR046 PubMed: Knight 1999 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR051 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 - PubMed: Knight 1999 - - De novo - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR055 PubMed: Knight 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 11 c.1058C>T r.(?) p.(Ala353Val) - Parent #1 - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 de novo in grand parents PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10364516-FamDCR056 PubMed: Knight 1999 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1058C>T r.(?) p.(Ala353Val) - Unknown - pathogenic g.154001427C>T g.154773152C>T - - DKC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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