Details for DNAH10:p.Arg3699Cys

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
124403439123918892
VARIANT EFFECT None
ANNOTATION FLAG None
GENE DNAH10
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg3699Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.02e-056.456e-050.00.05.564e-050.00.00010620.03.268e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.384565Disease causing
DBSNP ID NA
1 combination linked to DNAH10:p.Arg3699Cys OLI1306
1 disease linked to DNAH10:p.Arg3699Cys Juvenile amyotrophic lateral sclerosis
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