Individual #00311403

ID_report Pat4
Reference PubMed: Martinez 2020
Remarks -
Gender M
Consanguinity -
Country France
Population North Africa
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     
0000236650 see paper; ..., severe asthenozoospermia infertility, multiple morphological abnormalities of the flagella - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312573 DNA SEQ;SEQ-NG - - MAATS1 1 Johan den Dunnen



Variants

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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     
3 Both (homozygous) +/. - pathogenic (recessive) g.119422069G>C g.119703222G>C - - MAATS1_000003 effect on RNA predicted from expression cloning minigene splicing assay PubMed: Martinez 2020 - rs149348782 Germline - - - 0 - Johan den Dunnen MAATS1 - - - - - - NM_033364.3:c.124G>C - r.[(124g>c;124_125ins124+1_124+49)] p.(Asp42Argfs*15) - - - - - - - - - - - - - - - - - - -
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