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     
+/. 3 c.106T>G r.(?) p.(Phe36Val) - Parent #1 - pathogenic g.153993740T>G g.154765465T>G - - DKC1_000009 submitted through SIB; ExPASy_006811 PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09590285-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 3 c.106T>G r.(?) p.(Phe36Val) - Parent #1 - pathogenic g.153993740T>G g.154765465T>G - - DKC1_000009 data copied from the Telomerase database PubMed: Heiss 1998 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 09888995-Pat PubMed: Heiss 1998 - - - - - - 0 - - 1 Johan den Dunnen
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