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Details for TEX15:c.6511C>T, p.Arg2171Ter

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
30701172	30843656

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.6511C>T

PROTEIN CHANGE

p.Arg2171Ter

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
1.606e-05	0.0	0.0	0.0	5.456e-05	4.738e-05	1.772e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.610344	Disease causing

DBSNP ID

1 combination linked to TEX15:c.6511C>T, p.Arg2171Ter

1 disease linked to TEX15:c.6511C>T, p.Arg2171Ter

Primary ovarian failure

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