View genomic variant #0000000090

Chromosome 7
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.6017220G>A
Reference -
DB-ID PMS2_000002
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMS2 NM_000535.5 +/+ 14 c.2444C>T r.(?) p.(Ser815Leu)