Variant #0000300729 (NC_000012.11:g.48526712G>A, PFKM(NM_000289.5):c.299G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48526712G>A
DNA change (hg38) g.48132929G>A
Published as PFKM(NM_001166686.2):c.512G>A (p.R171Q)
ISCN -
DB-ID PFKM_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.17771 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PFKM NM_000289.5 -/. - c.299G>A r.(?) p.(Arg100Gln)
PFKM NM_001166686.1 -/. - c.512G>A r.(?) p.(Arg171Gln)
SENP1 NM_001267594.1 -/. - c.-26946C>T r.(?) p.(=)