View genomic variant #0000000111

Individual ID 00000116
Chromosome 2
Allele Maternal (confirmed)
Affects function (reported) Affects function
Affects function (concluded) Not classified
Type Deletion
DNA change (genomic) g.47635551_47635552delCT
Reference -
DB-ID MSH2_000001
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 +/. 02 c.223_224delCT r.(?) p.(Leu75Alafs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000118 DNA SEQ Blood MLH1, MSH2 2 Soto JL