Genomic variant #0000040228

Individual ID 00022014
Chromosome 3
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37089131A>G
Reference -
DB-ID MLH1_000108 See all 3 reported entries
dbSNP ID rs63750449
Variant remarks -
Genetic origin -
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.1853A>G r.(?) p.(Lys618Arg)
MLH1 NM_001167617.1 ./. - c.1559A>G r.(?) p.(Lys520Arg)
MLH1 NM_001167618.1 ./. - c.1130A>G r.(?) p.(Lys377Arg)
MLH1 NM_001167619.1 ./. - c.1130A>G r.(?) p.(Lys377Arg)
MLH1 NM_001258271.1 ./. - c.1853A>G r.(?) p.(Lys618Arg)
MLH1 NM_001258273.1 ./. - c.1130A>G r.(?) p.(Lys377Arg)
MLH1 NM_001258274.1 ./. - c.1130A>G r.(?) p.(Lys377Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007028 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou