Genomic variant #0000015990

Individual ID 00019744
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.37083760G>T
Reference -
DB-ID MLH1_000036 See all 2 reported entries
dbSNP ID  rs63751244
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 0.00017
Allele Count 1
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.1669G>T r.(?) p.(Glu557*)
MLH1 NM_001167617.1 +/+ - c.1375G>T r.(?) p.(Glu459*)
MLH1 NM_001167618.1 +/+ - c.946G>T r.(?) p.(Glu316*)
MLH1 NM_001167619.1 +/+ - c.946G>T r.(?) p.(Glu316*)
MLH1 NM_001258271.1 +/+ - c.1669G>T r.(?) p.(Glu557*)
MLH1 NM_001258273.1 +/+ - c.946G>T r.(?) p.(Glu316*)
MLH1 NM_001258274.1 +/+ - c.946G>T r.(?) p.(Glu316*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000411 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou