Genomic variant #0000651644

Individual ID 00293787
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.148407433C>T
DNA change (hg38) g.149027870C>T
Published as -
ISCN -
DB-ID SH3TC2_000107
Variant remarks conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India)
Reference Faruq 2020, submtted
ClinVar ID -
dbSNP ID rs143032801
Origin Germline
Segregation -
Frequency 2/2792 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00208 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SH3TC2 NM_024577.3 ?/. - c.1862G>A - r.(?) p.(Arg621His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294955 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq