Individual #00105830

ID_report 10364516-FamDCR008
Reference PubMed: Knight 1999
Remarks -
Gender F
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases DKCX
Owner name SIB - Livia Famiglietti


Phenotypes

dyskeratosis congenita, X-linked (DKCX, Hoyeraal-Hreidarsson syndrome (HHS)) (DKCX;HHS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000083733 X-linked recessive dyskeratosis congenita - - Familial, X-linked recessive - - - - - SIB - Livia Famiglietti



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106302 DNA SEQ - - DKC1 2 SIB - Livia Famiglietti



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Parent #1 +/. - pathogenic g.153993749A>G g.154765474A>G - - DKC1_000012 submitted through SIB; ExPASy_010077; de novo in mother PubMed: Knight 1999 - - De novo - - - 0 - SIB - Livia Famiglietti DKC1 - - - - - 3 NM_001363.3:c.115A>G - r.(?) p.(Lys39Glu) - - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. - benign g.154005148G>A g.154776873G>A - - DKC1_000064 - PubMed: Knight 1999 - - Germline - 11/100 controls - 0 - Johan den Dunnen DKC1 - - - - - 15 NM_001363.3:c.*6G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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