Variant #0000063353 (NC_000003.11:g.37035059T>C, MLH1(NM_000249.3):c.21T>C)

Individual ID 00036158
Chromosome 3
Allele Parent #1
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.37035059T>C
DNA change (hg38) g.36993568T>C
Published as -
ISCN -
DB-ID MLH1_001998
Variant remarks MGZ# 70745, Alamut: no change of splice-site usage
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/. - c.21T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036228 DNA SEQ - - MLH1 1 Andreas Laner