Variant #0000429253 (NC_000003.11:g.(?_37034841)_(37038201_37042445)del, MLH1(NM_000249.3):c.(?_-198)_(207+1_208-1)del)

Individual ID 00194892
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_37034841)_(37038201_37042445)del
DNA change (hg38) -
Published as (?_-198)_207+?del
ISCN -
DB-ID MLH1_001607 See all 5 reported entries
Variant remarks 2 index patients: male 41 y C. asc. Ca T3No , other female 46 y CC C18.9, no IHC, both Bethesda-pos.
Reference Elke Holinski-Feder and Monika Morak
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner INSiGHT group
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1_2i c.(?_-198)_(207+1_208-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000195861 DNA SEQ - - MLH1 1 INSiGHT group