Genomic variant #0000030674

Individual ID 00021544
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.48026630C>G
Reference -
DB-ID MSH6_000083
dbSNP ID rs63750897
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.1508C>G r.(?) p.(Ser503Cys)
MSH6 NM_001281492.1 -?/-? - c.1118C>G r.(?) p.(Ser373Cys)
MSH6 NM_001281493.1 -?/-? - c.602C>G r.(?) p.(Ser201Cys)
MSH6 NM_001281494.1 -?/-? - c.602C>G r.(?) p.(Ser201Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001718 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou