Genomic variant #0000031898

Individual ID 00021638
Chromosome 2
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.48025785A>C
Reference -
DB-ID MSH6_000028 See all 21 reported entries
dbSNP ID rs41557217
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 0.00355
Allele Count 21
Allele Number 5910
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/? - c.663A>C r.(?) p.(Glu221Asp)
MSH6 NM_001281492.1 ?/? - c.273A>C r.(?) p.(Glu91Asp)
MSH6 NM_001281493.1 ?/? - c.-244A>C r.(=) p.(=)
MSH6 NM_001281494.1 ?/? - c.-244A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001833 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou