Individual #00307042

ID_report PatM1943
Reference PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020
Remarks -
Gender M
Consanguinity -
Country Croatia (Hrvatska)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases INFM
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

infertility, male (INFM) (INFM)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000232867 follicle-stimulating hormone 5.5 (IU/L), luteinizing hormone 3.2 (IU/L), testosterone 43.6 (nmol/L), testicular volume right/left 28/20; cryptozoospermia or azoospermiaa; male infertility - Familial, autosomal recessive 43y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000308183 DNA SEQ;SEQ-NG - WES M1AP 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     

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     
2 Parent #2 +/. - pathogenic (recessive) g.74803718C>T g.74576591C>T - - M1AP_000001 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - Johan den Dunnen M1AP - - - - - - NM_138804.4:c.797G>A - r.(?) p.(Arg266Gln) - - - - - - - - - - - - - - - - - - -
2 Parent #1 +/. - pathogenic (dominant) g.74808894dup g.74581767dup - - M1AP_000006 - PubMed: Wyrwoll 2020, Journal: Wyrwoll 2020 - - Germline - - - 0 - Johan den Dunnen M1AP - - - - - - NM_138804.4:c.676dup - r.(?) p.(Trp226Leufs*4) - - - - - - - - - - - - - - - - - - -
Legend   How to query