Variant #0000724062 (NC_000012.11:g.48525177G>A, PFKM(NM_000289.5):c.237+1G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48525177G>A
DNA change (hg38) -
Published as PFKM(NM_001166686.2):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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 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.237+1G>A r.spl? p.?
PFKM NM_001166686.1 +/. - c.450+1G>A r.spl? p.?
SENP1 NM_001267594.1 +/. - c.-25411C>T r.(?) p.(=)