View genomic variant #0000000051

Individual ID 00000057
Chromosome 3
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
Type Deletion
DNA change (genomic) g.37038148_37038151del
Reference -
DB-ID MLH1_000002
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     
MLH1 NM_000249.3 +/. 02 c.155_158del r.(?) p.(Lys52Argfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000059 DNA SEQ Blood MLH1 1 Soto JL