Genomic variant #0000027450

Individual ID 00020148
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.37067099del
Reference -
DB-ID MLH1_000095 See all 5 reported entries
dbSNP ID rs746933807
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 0.0012
Allele Count 7
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.1039-29del r.(=) p.(=)
MLH1 NM_001167617.1 -?/-? - c.745-29del r.(=) p.(=)
MLH1 NM_001167618.1 -?/-? - c.316-29del r.(=) p.(=)
MLH1 NM_001167619.1 -?/-? - c.316-29del r.(=) p.(=)
MLH1 NM_001258271.1 -?/-? - c.1039-29del r.(=) p.(=)
MLH1 NM_001258273.1 -?/-? - c.316-29del r.(=) p.(=)
MLH1 NM_001258274.1 -?/-? - c.316-29del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001425 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou