Genomic variant #0000033491

Individual ID 00017851
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48030640dup
Reference -
DB-ID MSH6_000090
dbSNP ID rs587782425
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5762
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/+ - c.3254dup r.(?) p.(Phe1088Leufs*5)
MSH6 NM_001281492.1 +/+ - c.2864dup r.(?) p.(Phe958Leufs*5)
MSH6 NM_001281493.1 +/+ - c.2348dup r.(?) p.(Phe786Leufs*5)
MSH6 NM_001281494.1 +/+ - c.2348dup r.(?) p.(Phe786Leufs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001970 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou