Variant #0000426693 (NC_000003.11:g.37048541G>A, MLH1(NM_000249.3):c.440G>A)

Individual ID 00188427
Chromosome 3
Allele Paternal (confirmed)
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.37048541G>A
DNA change (hg38) g.37007050G>A
Published as -
ISCN -
DB-ID MLH1_001772 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Courtney Forgeng
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. 5 c.440G>A r.(?) p.(Gly147Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189396 DNA MLPA - screen data 2008-10-29 MLH1, PMS2 1 Courtney Forgeng