Genomic variant #0000238543

Individual ID 00145092
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148406585G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SH3TC2_000014 See all 5 reported entries
Variant remarks -
Reference PubMed: Azzedine 2006
ClinVar ID -
dbSNP ID rs80338931
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 +/. 11 c.2710C>T - r.(?) p.(Arg904*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145949 DNA SEQ - - SH3TC2 1 Johan den Dunnen