Screening #0000055508

Individual ID 00055555
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Michel van Geel


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
KRT9 keratin 9 17 q21.1-q21.2 1 90 37 2015-12-07 EPPK



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     
17 Parent #1 +/. g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Szalai 1999 - rs57758262 Unknown ? - - 0 - Michel van Geel KRT9 - - - - - 1 NM_000226.3:c.488G>A - - r.(?) p.(Arg163Gln) - - - - - - - - - - - - - - - - - - -
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