Screening #0000250489

Individual ID 00249382
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Peter van den Akker


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
COL7A1 collagen, type VII, alpha 1 3 p21.1 1 963 536 2019-07-30 NDNC-8, RDEB, Epidermolysis bullosa pruriginosa, epidermolysis bullosa, congenital localized absence of skin and nail deformity (EBD Bart type), epidermolysis bullosa, pretibial, Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn



Variants found

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
3 Both (homozygous) +/? g.48610345G>A - - - COL7A1_000018 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker COL7A1 - - - - - 86 NM_000094.3:c.6781C>T - pathogenic (recessive) r.(?) p.(Arg2261*) - - - - - - - - - - - - - - - - - - -
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