Genomic variant #0000038353

Individual ID 00019875
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.37083776A>C
Reference -
DB-ID MLH1_000133
dbSNP ID rs1553659377
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.1685 A>C r.(?) p.(Gln562Pro)
MLH1 NM_001167617.1 ?/? - c.1391A>C r.(?) p.(Gln464Pro)
MLH1 NM_001167618.1 ?/? - c.962A>C r.(?) p.(Gln321Pro)
MLH1 NM_001167619.1 ?/? - c.962A>C r.(?) p.(Gln321Pro)
MLH1 NM_001258271.1 ?/? - c.1685A>C r.(?) p.(Gln562Pro)
MLH1 NM_001258273.1 ?/? - c.962A>C r.(?) p.(Gln321Pro)
MLH1 NM_001258274.1 ?/? - c.962A>C r.(?) p.(Gln321Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006214 DNA SEQ 1 MLH1 1 Despoina Kalfakakou