Details for HMBS:p.Arg225Gln

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
118963136119092426
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE HMBS
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg225Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00016716.153e-050.00017350.05.437e-050.00013890.00027250.00.0

ESP
AAEA
0.00022730.0004657
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.405839Disease causing
DBSNP ID rs142459647
1 combination linked to HMBS:p.Arg225Gln OLI809
1 disease linked to HMBS:p.Arg225Gln Recurrent exertional rhabdomyolysis
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