Genomic variant #0000455066

Individual ID 00219081
Chromosome 5
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407430T>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID SH3TC2_000075
Variant remarks ACMG pm2, pm3, pp2, pp3
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.1865A>C likely pathogenic r.(?) p.(Gln622Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220153 DNA SEQ;SEQ-NG - targeted multigene panel SH3TC2 2 Johan den Dunnen