Genomic variant #0000027393

Individual ID 00020766
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.48030632G>T
Reference -
DB-ID MSH6_000042 See all 6 reported entries
dbSNP ID rs3136351
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 0.00104
Allele Count 6
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.3246G>T r.(=) p.(=)
MSH6 NM_001281492.1 -/- - c.2856G>T r.(=) p.(=)
MSH6 NM_001281493.1 -/- - c.2340G>T r.(=) p.(=)
MSH6 NM_001281494.1 -/- - c.2340G>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001420 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou