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Details for XIAP:c.1396G>T, p.Gly466Ter

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
123040933	123907083

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1396G>T

PROTEIN CHANGE

p.Gly466Ter

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.966117	Disease causing

DBSNP ID

1 combination linked to XIAP:c.1396G>T, p.Gly466Ter

1 disease linked to XIAP:c.1396G>T, p.Gly466Ter

X-linked lymphoproliferative disease

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