View genomic variant #0000000112

Individual ID 00000116
Chromosome 2
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Not classified
Type Substitution
DNA change (genomic) g.47643537C>G
Reference -
DB-ID MSH2_000002
Frequency -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Soto JL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/. 06 c.1045C>G r.(?) p.(Pro349Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000118 DNA SEQ Blood MLH1, MSH2 2 Soto JL