Variant #0000357067 (NC_000002.11:g.48025694C>T, MSH6(NM_000179.2):c.628-56C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48025694C>T
DNA change (hg38) g.47798555C>T
Published as -
ISCN -
DB-ID MSH6_000050 See all 18 reported entries
Variant remarks Insight class: 1
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 -/- 3i c.628-56C>T r.(=) p.(=)