Genomic variant #0000293701

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48525177G>A
DNA change (hg38) -
Published as PFKM(NM_001166686.1):c.450+1G>A
ISCN -
DB-ID PFKM_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PFKM NM_000289.5 +/. - c.237+1G>A pathogenic r.spl? p.?
SENP1 NM_001267594.1 +/. - c.-25411C>T pathogenic r.(?) p.(=)