Genomic variant #0000038312

Individual ID 00019761
Chromosome 3
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.37038175del
Reference -
DB-ID MLH1_000029 See all 4 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 0.00034
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.182del r.(?) p.(Ile61Thrfs*31)
MLH1 NM_001167617.1 +/+ - c.-108del r.(=) p.(=)
MLH1 NM_001167618.1 +/+ - c.-542del r.(=) p.(=)
MLH1 NM_001167619.1 +/+ - c.-450del r.(=) p.(=)
MLH1 NM_001258271.1 +/+ - c.182del r.(?) p.(Ile61Thrfs*31)
MLH1 NM_001258273.1 +/+ - c.-517+3021del r.(=) p.(=)
MLH1 NM_001258274.1 +/+ - c.-687del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006129 DNA SEQ 0 MLH1 1 Despoina Kalfakakou