Details for NDST1:p.Arg80His

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
149901055150521493
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NDST1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg80His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0010790.00043220.00052040.00099270.00.00.0020170.0011420.0

ESP
AAEA
0.00045390.003605
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.739205Polymorphism
DBSNP ID rs145390254
1 combination linked to NDST1:p.Arg80His OLI678
1 disease linked to NDST1:p.Arg80His Holoprosencephaly
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