Genomic variant #0000029319

Individual ID 00020940
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.37042541T>G
Reference -
DB-ID MLH1_000111
dbSNP ID rs4647220
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.303T>G r.(=) p.(=)
MLH1 NM_001167617.1 -/- - c.12+2T>G r.spl? p.?
MLH1 NM_001167618.1 -/- - c.-421T>G r.(=) p.(=)
MLH1 NM_001167619.1 -/- - c.-329T>G r.(=) p.(=)
MLH1 NM_001258271.1 -/- - c.303T>G r.(=) p.(=)
MLH1 NM_001258273.1 -/- - c.-421T>G r.(=) p.(=)
MLH1 NM_001258274.1 -/- - c.-421T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001588 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou