Genomic variant #0000548234

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48539352G>A
DNA change (hg38) -
Published as PFKM(NM_001166686.1):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 (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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