Genomic variant #0000039484

Individual ID 00016630
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.37035066C>T
Reference -
DB-ID MLH1_000137
dbSNP ID rs1193754562
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 0.00017
Allele Count 1
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.28C>T r.(?) p.(Arg10Trp)
MLH1 NM_001167617.1 ?/? - c.-489C>T r.(=) p.(=)
MLH1 NM_001167618.1 ?/? - c.-918C>T r.(=) p.(=)
MLH1 NM_001167619.1 ?/? - c.-831C>T r.(=) p.(=)
MLH1 NM_001258271.1 ?/? - c.28C>T r.(?) p.(Arg10Trp)
MLH1 NM_001258273.1 ?/? - c.-605C>T r.(=) p.(=)
MLH1 NM_001258274.1 ?/? - c.-1068C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006966 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou