Genomic variant #0000442485

Individual ID 00210010
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148406956A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID SH3TC2_000071 See all 2 reported entries
Variant remarks ACMG grading: PP5,PM2; reported in Zimo 2015. Neurogenetics 16: 33
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 ?/. - c.2339T>C ACMG: 3 r.(?) p.Leu780Pro



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211067 DNA SEQ-NG - - - 1 Andreas Laner