Genomic variant #0000029332

Individual ID 00020941
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.48026308C>G
Reference -
DB-ID MSH6_000021 See all 2 reported entries
dbSNP ID rs2020908
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 0.00035
Allele Count 2
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.1186C>G r.(?) p.(Leu396Val)
MSH6 NM_001281492.1 -/- - c.796C>G r.(?) p.(Leu266Val)
MSH6 NM_001281493.1 -/- - c.280C>G r.(?) p.(Leu94Val)
MSH6 NM_001281494.1 -/- - c.280C>G r.(?) p.(Leu94Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001589 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou