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Details for TRIP11:c.3962T>A, p.Leu1321Ter

CHROMOSOME

14

GENOMIC COORDINATES

hg19	hg38
92470358	92004014

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3962T>A

PROTEIN CHANGE

p.Leu1321Ter

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
0.0001315	0.0	0.0	0.0	0.0	0.001433	1.764e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.501893	Disease causing

DBSNP ID

1 combination linked to TRIP11:c.3962T>A, p.Leu1321Ter

1 disease linked to TRIP11:c.3962T>A, p.Leu1321Ter

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