Genomic variant #0000025820

Individual ID 00017614
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.48033792_48033795del
Reference -
DB-ID MSH6_000018 See all 7 reported entries
dbSNP ID rs367548604
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 0.00118
Allele Count 7
Allele Number 5910
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/? - c.4001+2_4001+5del r.(=) p.(=)
MSH6 NM_001281492.1 ?/? - c.3611+2_3611+5del r.(=) p.(=)
MSH6 NM_001281493.1 ?/? - c.3095+2_3095+5del r.(=) p.(=)
MSH6 NM_001281494.1 ?/? - c.3095+2_3095+5del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001284 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou