Individual #00080148

ID_report -
Reference PubMed: Muhn et al.2013
Remarks -
Gender F
Consanguinity ?
Country - (not applicable)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BD-E1
Owner name Francesca Marta Elli
Database submission license No license selected
Created by Francesca Marta Elli


Phenotypes

brachydactyly type E1 (BD-E1) (BD-E1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Stature     

Growth     

Teeth/Anomalies     

Brachydactyly     

Bone/Age     

Protein     

Calcification     

Face/Shape     

Hormone     

Calcium     

Intellectual_dis     

Ion_Homeostasis     

Weight     

Ossification/Ectopic     

Puberty     

Vitamin     

Owner     
0000073819 Short stature, short IV metacarpal and distal phalanx of the thumb (I) - - Unknown 44y 44y - - - - - - - - - - - - - - - - - - Guiomar Perez de Nanclares



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080242 DNA SEQ blood - - 2 Francesca Marta Elli



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown ?/. - VUS g.63872032T>C g.63406361T>C - - ALG6_000005 - - - - Germline - - - 0 - Gerard C.P. Schaafsma ALG6, PRKAR1A - - - - - 6, 7 NM_013339.3:c.391T>C, NM_002734.4:c.679G>A - r.(?), r.(679g>a) p.(Tyr131His), p.(Asp227Asn) - - - - - - - - - - - - - - - - - - - -
17 Unknown -?/-? - likely benign g.66522024G>A - - - PRKAR1A_000008 - PubMed: Muhn et al. 2013 - - Germline ? - - 0 - Francesca Marta Elli - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
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