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Details for SLC34A1:c.1535G>A, p.Arg512His

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
176824902	177397901

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1535G>A

PROTEIN CHANGE

p.Arg512His

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
5.972e-05	0.0006152	0.0	0.0	0.0	4.668e-05	3.518e-05	0.0	0.0

ESP
AA	EA
0.000227	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.756391	Disease causing

DBSNP ID

1 combination linked to SLC34A1:c.1535G>A, p.Arg512His

1 disease linked to SLC34A1:c.1535G>A, p.Arg512His

Hereditary hypophosphatemic rickets with hypercalciuria

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