Genomic variant #0000455061

Individual ID 00219078
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148427556_148427559del
DNA change (hg38) -
Published as 152-7_152-4delCTTT
ISCN -
DB-ID SH3TC2_000072
Variant remarks ACMG pvs1, pm2
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/612 cases
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 +?/. - c.152-7_152-4del likely pathogenic r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220150 DNA SEQ;SEQ-NG - targeted multigene panel SH3TC2 2 Johan den Dunnen