Details for NPHS1:c.791C>G, p.Pro264Arg

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
3634018735849285
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE NPHS1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_004646.3
CDNA CHANGE c.791C>G
PROTEIN CHANGE p.Pro264Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01080.02040.00860.00.01690.0041

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.014780.021640.0092750.021570.00.032110.015420.017570.008924

ESP
AAEA
0.016570.0157
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.629833Polymorphism
DBSNP ID rs34982899
1 combination linked to NPHS1:c.791C>G, p.Pro264Arg OLI321
1 disease linked to NPHS1:c.791C>G, p.Pro264Arg Genetic steroid-resistant nephrotic syndrome
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