Screening #0000081937

Individual ID 00081807
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 3
Owner name Guiomar Perez de Nanclares


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
PTHLH parathyroid hormone-like hormone 12 p12.1-p11.2 1 16 13 2018-11-28 BD-E2



Variants found

3 entries on 1 page. Showing entries 1 - 3.
Legend  

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 Parent #1 ?/. g.107881412A>C g.108162565A>C - - IFT57_000001 - PubMed: Wang 2015 - - Germline no - - 0 - Johan den Dunnen IFT57 - - - - - - NM_018010.3:c.1202T>G - - r.(?) p.(Leu401Arg) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. g.27224467_27224475del g.27184848_27184856del 286_294del (p.96_98del) - HOXA11_000001 - PubMed: Wang 2015 - - Germline no - - 0 - Johan den Dunnen HOXA11 - - - - - - NM_005523.5:c.289_297del - - r.(?) p.(Pro97_Ala99del) - - - - - - - - - - - - - - - - - - -
12 Maternal (confirmed) +/+? g.28122384A>C g.27969451A>C - - PTHLH_000006 - PubMed: Wang 2015 - - Germline yes - - 0 - Guiomar Perez de Nanclares PTHLH - - - - - 3 NM_198965.1:c.44T>G - - r.(?) p.(Leu15Arg) - - - - - - - - - - - - - - - - - - -
Legend