Genomic variant #0000011683

Individual ID 00016614
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.48033829C>G
Reference -
DB-ID MSH6_000004 See all 15 reported entries
dbSNP ID rs201482798
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 0.0026
Allele Count 15
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.4001+39C>G r.(=) p.(=)
MSH6 NM_001281492.1 -?/-? - c.3611+39C>G r.(=) p.(=)
MSH6 NM_001281493.1 -?/-? - c.3095+39C>G r.(=) p.(=)
MSH6 NM_001281494.1 -?/-? - c.3095+39C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000305 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou