Genomic variant #0000604352

Individual ID 00000001
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.8905054T>C
Reference -
DB-ID PMM2_000018
dbSNP ID rs11074924
Frequency 0.424
Allele Count 219
Allele Number 516
Combined Depth 5175
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.43742 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PMM2 NM_000303.2 ./. - c.447+19T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin