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Details for NPHS1:c.1930+11C>A,

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
36336259	35845357

VARIANT EFFECT

unknown

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1930+11C>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.159752	Disease causing

DBSNP ID

1 combination linked to NPHS1:c.1930+11C>A,

1 disease linked to NPHS1:c.1930+11C>A,

Congenital nephrotic syndrome

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