Individual #00081807

ID_report -
Reference PubMed: Wang 2015
Remarks 3-generation family, 7 affecteds (5F, 2M)
Gender F;M
Consanguinity no
Country China
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 7
Diseases BD-E2
Owner name Guiomar Perez de Nanclares


Phenotypes

brachydactyly type E2 (BD-E2) (BD-E2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000061452 see paper; ..., brachydactyly type E, short stature - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081937 DNA SEQ - - PTHLH 3 Guiomar Perez de Nanclares



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
3 Parent #1 ?/. - VUS 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 ?/. - VUS g.27224470_27224478del g.27184851_27184859del 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) +/+? - pathogenic 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) - - - - - - - - - - - - - - - - - - - -
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