Genomic variant #0000023657

Individual ID 00017382
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.48030714C>A
Reference -
DB-ID MSH6_000057
dbSNP ID rs374070511
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.3328C>A r.(?) p.(Pro1110Thr)
MSH6 NM_001281492.1 ?/? - c.2938C>A r.(?) p.(Pro980Thr)
MSH6 NM_001281493.1 ?/? - c.2422C>A r.(?) p.(Pro808Thr)
MSH6 NM_001281494.1 ?/? - c.2422C>A r.(?) p.(Pro808Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001045 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou