Details for DNAJC30:c.152A>G, p.Tyr51Cys

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
7309760273683272
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DNAJC30
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.152A>G
PROTEIN CHANGE p.Tyr51Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0011210.00.00.003390.00.0047920.0012130.00098330.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.97811Disease causing
DBSNP ID NA
1 combination linked to DNAJC30:c.152A>G, p.Tyr51Cys OLI1589
1 disease linked to DNAJC30:c.152A>G, p.Tyr51Cys Leigh syndrome

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