Genomic variant #0000027166

Individual ID 00020102
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.37067098_37067104del
Reference -
DB-ID MLH1_000043 See all 2 reported entries
dbSNP ID -
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 0.00072
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 -?/-? - c.1039-30_1039-24del r.(=) p.(=)
MLH1 NM_001167617.1 -?/-? - c.745-30_745-24del r.(=) p.(=)
MLH1 NM_001167618.1 -?/-? - c.316-30_316-24del r.(=) p.(=)
MLH1 NM_001167619.1 -?/-? - c.316-30_316-24del r.(=) p.(=)
MLH1 NM_001258271.1 -?/-? - c.1039-30_1039-24del r.(=) p.(=)
MLH1 NM_001258273.1 -?/-? - c.316-30_316-24del r.(=) p.(=)
MLH1 NM_001258274.1 -?/-? - c.316-30_316-24del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001397 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou