Variant #0000417177 (NC_000002.11:g.48030838A>T, MSH6(NM_000179.2):c.3438+14A>T)

Individual ID 00200966
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48030838A>T
DNA change (hg38) g.47803699A>T
Published as -
ISCN -
DB-ID MSH6_000215 See all 116 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.41113 View details
Owner Jack Ji
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/. 5i c.3438+14A>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000201936 DNA SEQ - screen date 2015-01-01 MLH1, MSH2, MSH6, PMS2 11 Jack Ji