Genomic variant #0000238526

Individual ID 00145075
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148427477_148427487delinsTTACTGG
DNA change (hg38) -
Published as 217_227delGCTGCTCGGAGinsCCAGTAA
ISCN -
DB-ID SH3TC2_000009
Variant remarks -
Reference PubMed: Azzedine 2006
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 Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 +/. 3 c.217_227delinsCCAGTAA - r.(?) p.(Ala73Profs*55)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145932 DNA SEQ - - SH3TC2 1 Johan den Dunnen