Variant #0000000103 (NC_000003.12:g.37007061A>C, NM_000249.3:c.451A>C (MLH1))

Individual ID 00000006
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.37007061A>C
Published as -
Reference N.A. Abdul Murad et al. (2012)
DB-ID MLH1_000001
dbSNP ID -
Frequency 76
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-22 09:37:42 +08:00 (CST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MLH1 NM_000249.3 ./. 5 c.451A>C - r.(?) p.(Thr151Pro) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000018 DNA DHPLC MLH1 1 MyHVP