Variant #0000548234 (NC_000012.11:g.48539352G>A, PFKM(NM_000289.5):c.2204G>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.48539352G>A
DNA change (hg38) g.48145569G>A
Published as PFKM(NM_001166686.2):c.2417G>A (p.R806Q)
ISCN -
DB-ID ASB8_000001
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PFKM NM_000289.5 ?/. - c.2204G>A r.(?) p.(Arg735Gln)
PFKM NM_001166686.1 ?/. - c.2417G>A r.(?) p.(Arg806Gln)
SENP1 NM_001267594.1 ?/. - c.-39586C>T r.(?) p.(=)
ASB8 NM_024095.3 ?/. - c.*3797C>T r.(=) p.(=)