Individual #00029771

ID_report 26059840-FamPatII1/2
Reference PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016
Remarks two affected sisters, unaffected parents
Gender F
Consanguinity yes
Country (Lebanon)
Population Lebanese
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases POF-8
Owner name Polona Le Quesne Stabej


Phenotypes

ovarian failure, premature, type 8 (POF-8) (POF-8)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000025736 see paper; ...; primary ovarian insufficiency with complete lack of any pubertal development and streak gonads - - Familial, autosomal recessive - - - - - Polona Le Quesne Stabej



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029814 DNA SEQ;SEQ-NG - - STAG3 7 Polona Le Quesne Stabej



Variants

7 entries on 1 page. Showing entries 1 - 7.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
5 Both (homozygous) g.149901205G>A g.150521643G>A rs148227466 - NDST1_000001 - PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - rs148227466 Germline - - - 0 - Johan den Dunnen NDST1 ?/. - - - - - 2 NM_001543.4:c.389G>A - - r.(?) p.(Arg130His) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.88962831G>H - rs150823294 - ZNF804B_000001 - PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - rs150823294 Germline - - - 0 - Johan den Dunnen ZNF804B ?/. - - - - - 4 NM_181646.2:c.535G>H - - r.(?) p.(Asp179AsnˆHisˆTyr) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.99796146A>C - - - STAG3_000003 - - - - Germline - - - 0 - Polona Le Quesne Stabej STAG3 +?/-? - - - - - - NM_012447.2:c.1293A>C - - r.(?) p.(Pro431=) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.99797031C>G - - - STAG3_000004 - - - rs2272345 Germline - - - 0 - Polona Le Quesne Stabej STAG3 -?/-? - - - - - - NM_012447.2:c.1573+41C>G - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
7 Both (homozygous) g.99798478_99798479dup - 1947_48dupCT - STAG3_000001 variant segregates with POI phenotype, unaffected sister homozygous for reference allele PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - - Germline yes - - 0 - Polona Le Quesne Stabej STAG3 +/+ - - - - - 19 NM_012447.2:c.1947_1948dup - - r.(?) p.(Tyr650Serfs*22) - - - - - - - - - - - - - - - - - - - - - - -
7 Unknown g.99799845T>A - - - STAG3_000005 - - - rs3982311 Germline - - - 0 - Polona Le Quesne Stabej STAG3 ./. - - - - - - NM_012447.2:c.2445T>A - - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - - - - -
16 Both (homozygous) g.89220527C>T - rs139520739 - ACSF3_000001 - PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 - rs139520739 Germline - - - 0 - Johan den Dunnen ACSF3 ?/. - - - - - 11 NM_174917.3:c.1643C>T - - r.(?) p.(Ser548Leu) - - - - - - - - - - - - - - - - - - - - - - -
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