Genomic variant #0000042907

Individual ID 00022074
Chromosome 7
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.6022480C>T
Reference -
DB-ID PMS2_000014 See all 7 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00119
Allele Count 7
Allele Number 5902
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 ./. - c.2149G>A r.(?) p.(Val717Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007572 DNA SEQ-NG-I 1 - 47 Stevi Xera