Genomic variant #0000042691

Individual ID 00022067
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.37061929A>G
Reference -
DB-ID MLH1_000143
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5990
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ./. - c.1013A>G r.(?) p.(Asn338Ser)
MLH1 NM_001167617.1 ./. - c.719A>G r.(?) p.(Asn240Ser)
MLH1 NM_001167618.1 ./. - c.290A>G r.(?) p.(Asn97Ser)
MLH1 NM_001167619.1 ./. - c.290A>G r.(?) p.(Asn97Ser)
MLH1 NM_001258271.1 ./. - c.1013A>G r.(?) p.(Asn338Ser)
MLH1 NM_001258273.1 ./. - c.290A>G r.(?) p.(Asn97Ser)
MLH1 NM_001258274.1 ./. - c.290A>G r.(?) p.(Asn97Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007564 DNA SEQ-NG-I 1 - 41 Stevi Xera