Genomic variant #0000024247

Individual ID 00017443
Chromosome 2
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48025785A>C
Reference -
DB-ID MSH6_000028 See all 20 reported entries
dbSNP ID rs41557217
Variant remarks -
Genetic origin -
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 0.00479
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     
0000001110 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou