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Details for SLC34A3:c.1561dupC, p.Leu521ProfsTer72

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140130625	137236173

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

TC

TRANSCRIPT

N.A.

CDNA CHANGE

c.1561dupC

PROTEIN CHANGE

p.Leu521ProfsTer72

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
6.413e-05	0.0	0.0002654	0.0	0.0	0.0	5.79e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.276691	Disease causing

DBSNP ID

1 combination linked to SLC34A3:c.1561dupC, p.Leu521ProfsTer72

1 disease linked to SLC34A3:c.1561dupC, p.Leu521ProfsTer72

Hereditary hypophosphatemic rickets with hypercalciuria

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