Genomic variant #0000701499

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.8817144A>C
Reference -
DB-ID PMM2_000005
dbSNP ID rs8056319
Frequency 0.0456
Homozygous 6
Heterozygote 19
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.639+4038A>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin