Genomic variant #0000414342

Individual ID 00200317
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6045579_6045674delinsATTT
DNA change (hg38) -
Published as c.24-12_107delinsAAAT
ISCN -
DB-ID PMS2_000205 See all 9 reported entries
Variant remarks -
Reference Carli Tops
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner INSiGHT group




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 1i_2 c.24-12_107delinsAAAT pathogenic r.(?) p.?/(p.Ser8ArgfsX5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201287 DNA SEQ - - PMS2 1 INSiGHT group