Genomic variant #0000651643

Individual ID 00293786
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407373C>T
DNA change (hg38) g.149027810C>T
Published as -
ISCN -
DB-ID SH3TC2_000106
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs199991156
Origin Germline
Segregation -
Frequency 1/2788 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 ?/. - c.1922G>A - r.(?) p.(Arg641His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294954 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq