Screening #0000080052

Individual ID 00079974
Template DNA
Technique SEQ
Tissue blood
Remarks -
Variants found? 1
Owner name Arrate Pereda


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

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     
12 Maternal (confirmed) +?/. g.28122254_28122381del g.27969321_27969448del 47_101+73del128 - PTHLH_000007 - PubMed: Thomas-Teinturier et al. 2016 - - Germline yes - - 0 - Arrate Pereda PTHLH - - - - - 3_3i NM_198965.1:c.47_101+73del - - r.? p.? - - - - - - - - - - - - - - - - - - -
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