Variant #0000426733 (NC_000003.11:g.37034809G>C, MLH1(NM_000249.3):c.-230G>C)

Individual ID 00188552
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.37034809G>C
DNA change (hg38) g.36993318G>C
Published as MLH1 -230G>C or EPM2AIP1 -241C>G; not in 5`UTR of MLH1 or EPM2AIP1
ISCN -
DB-ID MLH1_001796
Variant remarks -
Reference -
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 Elke Holinski-Feder
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. _1 c.-230G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189521 DNA MLPA;SEQ-NG - - MLH1, MSH2, MSH6, PMS2 1 Elke Holinski-Feder