Genomic variant #0000060725

Individual ID 00033808
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47703180C>G
DNA change (hg38) g.47669269C>G
Published as -
ISCN -
DB-ID PHKB_000001
Variant remarks patient heterozygous for PYGM variant of unknown significance
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
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     
PHKB NM_000293.2 ?/. 26 c.2482C>G - r.(?) p.(Pro828Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033881 DNA SEQ;SEQ-NG-I - - PHKB 1 Shu Yau