Genomic variant #0000038354

Individual ID 00019881
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48027775A>T
Reference -
DB-ID MSH6_000033 See all 4 reported entries
dbSNP ID rs587782593
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00035
Allele Count 2
Allele Number 5762
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/+ - c.2653A>T r.(?) p.(Lys885*)
MSH6 NM_001281492.1 +/+ - c.2263A>T r.(?) p.(Lys755*)
MSH6 NM_001281493.1 +/+ - c.1747A>T r.(?) p.(Lys583*)
MSH6 NM_001281494.1 +/+ - c.1747A>T r.(?) p.(Lys583*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006216 DNA SEQ 0 MSH6 1 Despoina Kalfakakou