Individual #00073649

ID_report -
Reference PubMed: Li 2016
Remarks -
Gender F
Consanguinity no
Country China
Population 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     
0000053385 secondary amenorrhea (HP:0000869), FSH=124 IU/L - - Unknown - - - - - Lin Li



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073808 DNA PCR;SEQ-NG-I Blood - AMHR2 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     
12 Unknown -/. g.53818072C>A g.53424288C>A A17E - AMHR2_000001 effect on splicing? PubMed: Li 2016, - - Germline ? - - 0 - Lin Li AMHR2 - - - - - 2 NM_020547.2:c.50C>A - - r.(50c>a) p.(Ala17Glu) - - - - - - - - - - - - - - - - - - -
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