Genomic variant #0000058551

Individual ID 00029771
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.99797031C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID STAG3_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2272345
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.2698 View details
Owner Polona Le Quesne Stabej




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STAG3 NM_012447.2 -?/-? - c.1573+41C>G - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029814 DNA SEQ;SEQ-NG - - STAG3 7 Polona Le Quesne Stabej