Details for NID1:c.2204G>A, p.Arg735His

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
236180498236017198
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NID1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_002508.2
CDNA CHANGE c.2204G>A
PROTEIN CHANGE p.Arg735His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00760.00.00720.0030.0070.0235

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0089050.0013530.0034980.022030.00065240.021710.0061390.010590.02054

ESP
AAEA
0.0013620.004651
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.761017None
DBSNP ID rs140374909
2 combinations linked to NID1:c.2204G>A, p.Arg735His OLI723; OLI751
1 disease linked to NID1:c.2204G>A, p.Arg735His Isolated anencephaly
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