Genomic variant #0000248773

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48501161A>T
DNA change (hg38) -
Published as PFKM(NM_001166686.1):c.5A>T (p.H2L)
ISCN -
DB-ID PFKM_000005
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) 0.18748 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PFKM NM_000289.5 -/. - c.-12037A>T benign r.(?) p.(=)
SENP1 NM_001267594.1 -/. - c.-1395T>A benign r.(?) p.(=)