Genomic variant #0000009880

Individual ID 00016559
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48027520G>C
Reference -
DB-ID MSH6_000007 See all 9 reported entries
dbSNP ID rs61748083
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 0.00156
Allele Count 9
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.2398G>C r.(?) p.(Val800Leu)
MSH6 NM_001281492.1 -?/-? - c.2008G>C r.(?) p.(Val670Leu)
MSH6 NM_001281493.1 -?/-? - c.1492G>C r.(?) p.(Val498Leu)
MSH6 NM_001281494.1 -?/-? - c.1492G>C r.(?) p.(Val498Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000263 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou