Genomic variant #0000023086

Individual ID 00017324
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.37053550G>A
Reference -
DB-ID MLH1_000070 See all 2 reported entries
dbSNP ID rs2308317
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 0.00034
Allele Count 2
Allele Number 5842
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -/- - c.637G>A r.(?) p.(Val213Met)
MLH1 NM_001167617.1 -/- - c.343G>A r.(?) p.(Val115Met)
MLH1 NM_001167618.1 -/- - c.-87G>A r.(=) p.(=)
MLH1 NM_001167619.1 -/- - c.-87G>A r.(=) p.(=)
MLH1 NM_001258271.1 -/- - c.637G>A r.(?) p.(Val213Met)
MLH1 NM_001258273.1 -/- - c.-87G>A r.(=) p.(=)
MLH1 NM_001258274.1 -/- - c.-87G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000983 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou