Details for ALAD:c.36C>G, p.Phe12Leu

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
116155804113393524
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ALAD
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000031.5
CDNA CHANGE c.36C>G
PROTEIN CHANGE p.Phe12Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.789e-050.00.00.00.00.04.409e-050.00032660.0

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.059319Disease causing
DBSNP ID rs121912984
1 combination linked to ALAD:c.36C>G, p.Phe12Leu OLI001
1 disease linked to ALAD:c.36C>G, p.Phe12Leu Hereditary coproporphyria
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