Genomic variant #0000018044

Individual ID 00019891
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48027755T>C
Reference -
DB-ID MSH6_000008 See all 60 reported entries
dbSNP ID rs2020912
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 0.00981
Allele Count 58
Allele Number 5910
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/- - c.2633T>C r.(?) p.(Val878Ala)
MSH6 NM_001281492.1 -/- - c.2243T>C r.(?) p.(Val748Ala)
MSH6 NM_001281493.1 -/- - c.1727T>C r.(?) p.(Val576Ala)
MSH6 NM_001281494.1 -/- - c.1727T>C r.(?) p.(Val576Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000539 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou