Genomic variant #0000030579

Individual ID 00017764
Chromosome 3
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.37035130C>G
Reference -
DB-ID MLH1_000028 See all 3 reported entries
dbSNP ID rs730882127
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 0.00051
Allele Count 3
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.92C>G r.(?) p.(Ala31Gly)
MLH1 NM_001167617.1 ?/? - c.-425C>G r.(=) p.(=)
MLH1 NM_001167618.1 ?/? - c.-854C>G r.(=) p.(=)
MLH1 NM_001167619.1 ?/? - c.-767C>G r.(=) p.(=)
MLH1 NM_001258271.1 ?/? - c.92C>G r.(?) p.(Ala31Gly)
MLH1 NM_001258273.1 ?/? - c.-541C>G r.(=) p.(=)
MLH1 NM_001258274.1 ?/? - c.-1004C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001708 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou