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.
Legend   How to query  

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.146C>T r.(?) p.(Thr49Met) - Parent #1 - pathogenic g.153993780C>T g.154765505C>T - - DKC1_000021 submitted through SIB; ExPASy_015675 PubMed: Knight 1999 - - Germline - - - 0 - DNA SEQ - - DKCX;HHS 10583221-FamB PubMed: Knight 1999 3-generation family, 3 affected nephews, unaffected carrier mothers M - United Kingdom (Great Britain) - - 0 - - 3 SIB - Livia Famiglietti
+/. - c.146C>T r.(?) p.(Thr49Met) - Unknown - pathogenic g.153993780C>T g.154765505C>T - - DKC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query