Genomic variant #0000006223

Individual ID 00021120
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48032033C>T
Reference -
DB-ID MSH6_000017 See all 12 reported entries
dbSNP ID rs192614006
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 0.00208
Allele Count 12
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.3439-16C>T r.(=) p.(=)
MSH6 NM_001281492.1 -/- - c.3049-16C>T r.(=) p.(=)
MSH6 NM_001281493.1 -/- - c.2533-16C>T r.(=) p.(=)
MSH6 NM_001281494.1 -/- - c.2533-16C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000172 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou