Individual #00046337

ID_report -
Reference PubMed: Prontera 2015, Journal: Prontera 2015
Remarks 5-generation family, 1 affected (SHORT syndrome), heterozygous carriers have short stature
Gender F
Consanguinity yes
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel ID 00047816
Panel size 1
Diseases SHORT
Owner name B. Augello


Phenotypes

SHORT syndrome (SHORT) (SHORT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000034687 see paper; SHORT syndrome, high IGFI levels, CNS defects, developmental delay, pronounced progeroid appearance, ... - - Familial, autosomal recessive - - - - - B. Augello



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046442 DNA;RNA RT-PCR;SEQ;SEQ-NG - - IGF1R 6 B. Augello



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Owner     

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Effect     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

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Exon_old     

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CodonNr     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein/Stain     

Protein level     
1 Both (homozygous) g.157551402C>T g.157581612C>T - - FCRL4_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs146388580 Germline no - - 0 - Johan den Dunnen FCRL4 -?/. - - - - - - NM_031282.2:c.1168G>A - - r.(?) p.(Ala390Thr) - - - - - - - - - - - - - - - - - - - - - - -
12 Both (homozygous) g.52913971C>T g.52520187C>T - - KRT5_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs61747181 Germline no - - 0 - Johan den Dunnen KRT5 -?/. - - - - - - NM_000424.3:c.110G>A - - r.(?) p.(Arg37Gln) - - - - - - - - - - - - - - - - - - - - - - -
14 Both (homozygous) g.100377875T>A g.99911538T>A - - EML1_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - - Germline no - - 0 - Johan den Dunnen EML1 ?/. - - - - - - NM_001008707.1:c.1513T>A - - r.(?) p.(Ser505Thr) - - - - - - - - - - - - - - - - - - - - - - -
15 Both (homozygous) g.75503399G>A g.75211058G>A - - C15orf39_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs149175372 Germline no - - 0 - Johan den Dunnen C15orf39 -?/. - - - - - - NM_015492.4:c.3086G>A - - r.(?) p.(Arg1029Lys) - - - - - - - - - - - - - - - - - - - - - - -
15 Both (homozygous) g.99460105G>T g.98916876G>T - - IGF1R_000025 - PubMed: Prontera 2015, Journal: Prontera 2015 - - Germline yes - - 0 - B. Augello IGF1R +?/. - - - - - 10 NM_000875.3:c.2201G>T - - r.2201_2202ins2201+1_2201+75 p.Pro733_Arg734insMYPAHVKFQFAKPTAQAGSVAFLPT - - - - - - - - - - - - - - - - - - - - - - -
19 Both (homozygous) g.55258831G>A g.54747379G>A - - KIR2DL3_000001 - PubMed: Prontera 2015, Journal: Prontera 2015 - rs201264012 Germline no - - 0 - Johan den Dunnen KIR2DL3 -?/. - - - - - - NM_015868.2:c.709G>A - - r.(?) p.(Glu237Lys) - - - - - - - - - - - - - - - - - - - - - - -
Legend