Genomic variant #0000042339

Individual ID 00022058
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48033789C>T
Reference -
DB-ID MSH6_000112
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5910
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ./. - c.4000C>T r.(?) p.(Arg1334Trp)
MSH6 NM_001281492.1 ./. - c.3610C>T r.(?) p.(Arg1204Trp)
MSH6 NM_001281493.1 ./. - c.3094C>T r.(?) p.(Arg1032Trp)
MSH6 NM_001281494.1 ./. - c.3094C>T r.(?) p.(Arg1032Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007555 DNA SEQ-NG-I 1 - 41 Stevi Xera