Genomic variant #0000038433

Individual ID 00021125
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.48010518C>T
Reference -
DB-ID MSH6_000103
dbSNP ID rs775498550
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 0.00017
Allele Count 1
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.146C>T r.(?) p.(Ala49Val)
MSH6 NM_001281492.1 ?/? - c.146C>T r.(?) p.(Ala49Val)
MSH6 NM_001281493.1 ?/? - c.-591C>T r.(=) p.(=)
MSH6 NM_001281494.1 ?/? - c.-1369C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006891 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou