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Details for SYT14:c.476C>T, p.Pro159Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
210267700	210094355

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.476C>T

PROTEIN CHANGE

p.Pro159Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0089	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005182	0.0	2.9e-05	0.0	0.004841	0.0	0.00015	0.0001633	0.0007188

ESP
AA	EA
0.0	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.893768	Disease causing

DBSNP ID

1 combination linked to SYT14:c.476C>T, p.Pro159Leu

1 disease linked to SYT14:c.476C>T, p.Pro159Leu

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