Genomic variant #0000024316

Individual ID 00017450
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48032717T>A
Reference -
DB-ID MSH6_000003 See all 66 reported entries
dbSNP ID rs189436849
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 0.01145
Allele Count 66
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.3557-40T>A r.(=) p.(=)
MSH6 NM_001281492.1 -?/-? - c.3167-40T>A r.(=) p.(=)
MSH6 NM_001281493.1 -?/-? - c.2651-40T>A r.(=) p.(=)
MSH6 NM_001281494.1 -?/-? - c.2651-40T>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001115 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou