Genomic variant #0000038376

Individual ID 00019961
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.48032823C>A
Reference -
DB-ID MSH6_000040 See all 5 reported entries
dbSNP ID rs1572742021
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.3623C>A r.(?) p.(Ser1208Tyr)
MSH6 NM_001281492.1 ?/? - c.3233C>A r.(?) p.(Ser1078Tyr)
MSH6 NM_001281493.1 ?/? - c.2717C>A r.(?) p.(Ser906Tyr)
MSH6 NM_001281494.1 ?/? - c.2717C>A r.(?) p.(Ser906Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006266 DNA SEQ 0 MSH6 1 Despoina Kalfakakou