Genomic variant #0000055900

Individual ID 00029771
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.99798478_99798479dup
DNA change (hg38) -
Published as 1947_48dupCT
ISCN -
DB-ID STAG3_000001
Variant remarks variant segregates with POI phenotype, unaffected sister homozygous for reference allele
Reference PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Polona Le Quesne Stabej




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
STAG3 NM_012447.2 +/+ 19 c.1947_1948dup - r.(?) p.(Tyr650Serfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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