Genomic variant #0000026340

Individual ID 00020967
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.48032098A>T
Reference -
DB-ID MSH6_000067
dbSNP ID rs63750252
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.3488A>T r.(?) p.(Glu1163Val)
MSH6 NM_001281492.1 -?/-? - c.3098A>T r.(?) p.(Glu1033Val)
MSH6 NM_001281493.1 -?/-? - c.2582A>T r.(?) p.(Glu861Val)
MSH6 NM_001281494.1 -?/-? - c.2582A>T r.(?) p.(Glu861Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001329 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou