Details for NAV1:c.2947C>A, p.Pro983Thr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
201755657201786529
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NAV1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_020443.4
CDNA CHANGE c.2947C>A
PROTEIN CHANGE p.Pro983Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00055750.00018460.00040660.00.00.00046270.00090580.00032690.0002619

ESP
AAEA
0.0002270.000814
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.043926Polymorphism
DBSNP ID rs145865304
1 combination linked to NAV1:c.2947C>A, p.Pro983Thr OLI574
1 disease linked to NAV1:c.2947C>A, p.Pro983Thr Disorder of sex development
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