Genomic variant #0000000633

Individual ID 00000064
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.8906914A>C
DNA change (hg38) g.8813057A>C
Published as -
ISCN -
DB-ID PMM2_000049 See all 10 reported entries
Variant remarks -
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01847 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PMM2 NM_000303.2 ?/. 7 c.590A>C - r.(?) p.(Glu197Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000064 DNA SEQ-NG - - ATP7B, CYP21A2, ETFB, FKTN, GLB1, HEXB, IGHMBP2, LYST, NHLRC1, PMM2, SBDS, SMPD1 12 LOVD-team, but with Curator vacancy