Genomic variant #0000085742

Individual ID 00000001
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.8806957C>T
Reference -
DB-ID PMM2_000016
dbSNP ID rs17651644
Frequency 0.2221
Homozygous 17
Heterozygote 117
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMM2 NM_000303.2 ./. - c.347+550C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin