Details for NPHS1:c.2335-1G>A,

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
3633345335842551
VARIANT EFFECT splicing
ANNOTATION FLAG manually_attributed
GENE NPHS1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004646.4
CDNA CHANGE c.2335-1G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
9.158e-050.00.00.00.04.638e-050.00019380.00.0

ESP
AAEA
0.00.0006977
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.499613Disease causing
DBSNP ID rs150038620
1 combination linked to NPHS1:c.2335-1G>A, OLI255
1 disease linked to NPHS1:c.2335-1G>A, Congenital nephrotic syndrome
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