Details for SNX13:c.709C>T, p.Pro237Ser

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
1791319517873572
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE SNX13
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT ENST00000428135.7
CDNA CHANGE c.709C>T
PROTEIN CHANGE p.Pro237Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0010.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0026990.00046530.00071670.0030380.00.0048710.0036770.0025050.002307

ESP
AAEA
0.00082780.004664
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.063068Polymorphism
DBSNP ID rs201830759
1 combination linked to SNX13:c.709C>T, p.Pro237Ser OLI763
1 disease linked to SNX13:c.709C>T, p.Pro237Ser Isolated anencephaly
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