Genomic variant #0000018818

Individual ID 00019964
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.37035159G>C
Reference Thodi et al (2010)  
DB-ID MLH1_000052 See all 4 reported entries
dbSNP ID rs267607710
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.116+5G>C r.spl? p.?
MLH1 NM_001167617.1 +/+ - c.-396G>C r.(=) p.(=)
MLH1 NM_001167618.1 +/+ - c.-825G>C r.(=) p.(=)
MLH1 NM_001167619.1 +/+ - c.-738G>C r.(=) p.(=)
MLH1 NM_001258271.1 +/+ - c.116+5G>C r.spl? p.?
MLH1 NM_001258273.1 +/+ - c.-517+5G>C r.spl? p.?
MLH1 NM_001258274.1 +/+ - c.-975G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000609 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou