Genomic variant #0000239558

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.8819946A>C
Reference -
DB-ID PMM2_000009
dbSNP ID rs1985263
Frequency 0.1618
Homozygous 21
Heterozygote 66
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+6840A>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin