Variant #0000660668 (NC_000012.11:g.48526711C>T, PFKM(NM_000289.5):c.298C>T)

Individual ID 00296851
Chromosome 12
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48526711C>T
DNA change (hg38) g.48132928C>T
Published as -
ISCN -
DB-ID PFKM_000010
Variant remarks no second variant detected in PFKM
Reference -
ClinVar ID -
dbSNP ID rs374547385
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PFKM NM_000289.5 +?/. - c.298C>T r.(?) p.(Arg100*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297961 DNA SEQ-NG-S - - - 1 Andreas Laner