Genomic variant #0000024673

Individual ID 00017483
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.47693768T>C
Reference -
DB-ID MSH2_000059 See all 2 reported entries
dbSNP ID rs186239388
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 0.00034
Allele Count 2
Allele Number 5840
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/? - c.1511-29T>C r.(=) p.(=)
MSH2 NM_001258281.1 ?/? - c.1313-29T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001146 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou