Individual #00151484

ID_report FamPat31b
Reference PubMed: Clement-Pat2, PubMed: Godfrey 2007
Remarks relative of FamPat31a
Gender ?
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel ID 00151483
Panel size 1
Diseases LGMD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

dystrophy, muscular, limb-girdle (LGMD) (LGMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000123854 contractures, hypertrophy, spine unaffected, weakness lower limbs > upper limbs, MRI normal, congenital hip dislocation, increased weakness with fever; no microcephaly, no eye involvement; CPK level 5700; no intellectual disability (-HP:0001249); able to run limb-girdle muscular dystrophy LGMD2M Unknown - - 9m - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152339 DNA SEQ - - FKTN 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     

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     
9 Parent #1 +/. - pathogenic g.108363600G>A g.105601319G>A - - FKTN_000022 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen FKTN - - - - 5 NM_001079802.1:c.340G>A - r.(?) p.(Ala114Thr) - - - - - - - - - - - - - - - - - - -
9 Parent #2 +/. - pathogenic g.108377637del g.105615356del - - FKTN_000029 - PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen FKTN - - - - 8 NM_001079802.1:c.859del - r.(?) p.(Thr287Hisfs*2) - - - - - - - - - - - - - - - - - - -
Legend   How to query