Variant #0000724061 (NC_000012.11:g.48516553G>A, PFKM(NM_000289.5):c.-5G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48516553G>A
DNA change (hg38) -
Published as PFKM(NM_001166686.2):c.209G>A (p.W70*)
ISCN -
DB-ID PFKM_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PFKM NM_000289.5 ?/. - c.-5G>A r.(?) p.(=)
PFKM NM_001166686.1 ?/. - c.209G>A r.(?) p.(Trp70Ter)
SENP1 NM_001267594.1 ?/. - c.-16787C>T r.(?) p.(=)