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Details for SLC34A1:c.1172C>T, p.Thr391Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
176821194	177394193

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1172C>T

PROTEIN CHANGE

p.Thr391Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0023	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001442	0.001853	0.0	0.0	0.0	0.0	4.456e-05	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.53133	Polymorphism

DBSNP ID

1 combination linked to SLC34A1:c.1172C>T, p.Thr391Met

1 disease linked to SLC34A1:c.1172C>T, p.Thr391Met

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