Individual #00106553

ID_report 606181126
Reference -
Remarks Mother is also affected
Gender F
Consanguinity ?
Country (Germany)
Population -
Age/Death -
VIP 0
Data_av no
Treatment -
Panel size 1
Diseases SCA-1, SCA-10, SCA-11, SCA-14, SCA-17, SCA-27, SCA-5, SCA-6, SCA-7, SCA-8
Owner name Friederike Hein


Phenotypes

ataxia, spinocerebellar, type 14 (SCA-14) (SCA-14)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000084358 - - - Familial, autosomal dominant 73y - - - - Friederike Hein



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107022 DNA SEQ - - FGF14, PRKACG, SPTBN2, TTBK2 Not yet submitted Friederike Hein
0000107023 DNA SEQ - - PRKCG 1 Friederike Hein



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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     
19 Unknown ?/. g.54394982A>G g.53891728A>G 12539A>G - PRKCG_000003 - - - - Germline ? - - 0 - Friederike Hein PRKCG - - - - - 6 NM_002739.3:c.584A>G - - r.(584a>g) p.(Tyr195Cys) - - - - - - - - - - - - - - - - - - -
Legend