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Details for SLC34A1:c.80C>T, p.Thr27Met

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
176812822	177385821

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.80C>T

PROTEIN CHANGE

p.Thr27Met

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
2.428e-05	6.221e-05	0.0	0.0	0.0	0.0	4.523e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.643167	Polymorphism

DBSNP ID

1 combination linked to SLC34A1:c.80C>T, p.Thr27Met

1 disease linked to SLC34A1:c.80C>T, p.Thr27Met

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