Details for DYNC2H1:c.11747G>A, p.Gly3916Asp

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
103191758103321029
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE DYNC2H1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001080463.1
CDNA CHANGE c.11747G>A
PROTEIN CHANGE p.Gly3916Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00080.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00021060.00.00058150.00.00.00.00025880.00034493.639e-05

ESP
AAEA
0.00.000246
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign4.05356Disease causing
DBSNP ID rs201479015
1 combination linked to DYNC2H1:c.11747G>A, p.Gly3916Asp OLI458
1 disease linked to DYNC2H1:c.11747G>A, p.Gly3916Asp Short rib-polydactyly syndrome
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