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Details for SLC34A3:p.Ser192Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140127675	137233223

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ser192Leu

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
0.0004362	0.0001042	3.504e-05	0.0	0.0	0.0	0.0009616	0.001028	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.273874	Disease causing

DBSNP ID

3 combinations linked to SLC34A3:p.Ser192Leu

OLI1790; OLI1791; OLI1792

1 disease linked to SLC34A3:p.Ser192Leu

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