View genomic variant #0000000116

Individual ID 00000120
Chromosome 2
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
Type Deletion
DNA change (genomic) g.47639598delG
Reference -
DB-ID MSH2_000005 See all 2 reported entries
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Soto JL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. 04 c.691delG r.(?) p.(Asp231Thrfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000122 DNA SEQ Blood MSH2 1 Soto JL