Genomic variant #0000060722

Individual ID 00033808
Chromosome 11
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.64525299G>A
DNA change (hg38) g.64757827G>A
Published as -
ISCN -
DB-ID PYGM_000001
Variant remarks patient heterozygous for PHKB variant of unknown significance
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Shu Yau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PYGM NM_005609.2 ?/. 5 c.612C>T - r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033876 DNA SEQ-NG-I;SEQ - - PYGM 1 Johan den Dunnen