Screening #0000106304

Individual ID 00105832
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name SIB - Livia Famiglietti


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
DKC1 dyskeratosis congenita 1, dyskerin X q28 1 143 92 2020-08-06 DKCX;HHS, ID



Variants found

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.153993755G>A g.154765480G>A - - DKC1_000019 submitted through SIB; ExPASy_010078 PubMed: Knight 1999 - - Germline - - - 0 - SIB - Livia Famiglietti DKC1 - - - - - 3 NM_001363.3:c.121G>A - r.(?) p.(Glu41Lys) - - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. - benign g.154005111_154005113dup g.154776836_154776838dup - - DKC1_000065 found in 0/100 UK, 3/53 Greek and 3/29 Turkish chromosomes PubMed: Knight 1999 - - Germline - 6/182 control chromosomes - 0 - Johan den Dunnen DKC1 - - - - - 15 NM_001363.3:c.1514_1516dup - r.(?) p.(Lys505_Ala506insGlu) - - - - - - - - - - - - - - - - - - - -
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