Individual #00101241

ID_report -
Reference PubMed: Li 2017
Remarks -
Gender F
Consanguinity ?
Country China
Population Han Chinese
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases POF
Owner name Lin Li


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000079483 . The serum FSH level of the patient who carried DelG mutation was 51.07 IU/l; LH = 27.69 IU/l; E2 (estradiol) = 82.64 pmol/l; testosterone (T) = 1.94 nmol/l; prolactin = 15.85 ng/ml. - - Unknown - - - - - Lin Li



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101685 DNA SEQ-NG-I Blood - NOBOX 1 Lin Li



Variants

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     
7 Both (homozygous) +/. g.144098161delC g.144401068delC NM_001080413.2:c.567delG - NOBOX_000001 - PubMed: Li 2017 - - Germline ? - - 0 - Lin Li NOBOX - - - - - 4 NM_001080413.3:c.822delG - - r.(?) p.(Thr275Hisfs*13) - - - - - - - - - - - - - - - - - - -
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