Genomic variant #0000414647

Individual ID 00200583
Chromosome 7
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup]
DNA change (hg38) -
Published as -
ISCN -
DB-ID PMS2_000326 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Julia Vogt
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMS2 NM_000535.5 +/. 11 g.[6027030_6027251del;6027252_6945161inv;6839984_6945161dup] pathogenic r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201553 DNA;RNA arrayCNV;MLPA;PCR - - PMS2 2 Julia Vogt