Genomic variant #0000019066

Individual ID 00019983
Chromosome 3
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.37067094_37067102del
Reference -
DB-ID MLH1_000003 See all 126 reported entries
dbSNP ID rs57509953
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 0.02253
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -/- - c.1039-34_1039-26del r.(=) p.(=)
MLH1 NM_001167617.1 -/- - c.745-34_745-26del r.(=) p.(=)
MLH1 NM_001167618.1 -/- - c.316-34_316-26del r.(=) p.(=)
MLH1 NM_001167619.1 -/- - c.316-34_316-26del r.(=) p.(=)
MLH1 NM_001258271.1 -/- - c.1039-34_1039-26del r.(=) p.(=)
MLH1 NM_001258273.1 -/- - c.316-34_316-26del r.(=) p.(=)
MLH1 NM_001258274.1 -/- - c.316-34_316-26del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000629 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou