Genomic variant #0000040117

Individual ID 00021992
Chromosome 3
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.37092019G>A
Reference -
DB-ID MLH1_000051 See all 4 reported entries
dbSNP ID rs35831931
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 0.0005
Allele Count 3
Allele Number 5990
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -/- - c.2146G>A r.(?) p.(Val716Met)
MLH1 NM_001167617.1 -/- - c.1852G>A r.(?) p.(Val618Met)
MLH1 NM_001167618.1 -/- - c.1423G>A r.(?) p.(Val475Met)
MLH1 NM_001167619.1 -/- - c.1423G>A r.(?) p.(Val475Met)
MLH1 NM_001258271.1 -/- - c.1939G>A r.(?) p.(Val647Met)
MLH1 NM_001258273.1 -/- - c.1423G>A r.(?) p.(Val475Met)
MLH1 NM_001258274.1 -/- - c.1423G>A r.(?) p.(Val475Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007006 DNA SEQ-NG-I - - 4 Despoina Kalfakakou