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Details for ITPR3:c.4862T>C, p.Leu1621Pro

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
33651870	33684093

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.4862T>C

PROTEIN CHANGE

p.Leu1621Pro

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
7.983e-06	0.0	0.0	0.0	0.0	0.0	1.763e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.199206	Disease causing

DBSNP ID

1 combination linked to ITPR3:c.4862T>C, p.Leu1621Pro

1 disease linked to ITPR3:c.4862T>C, p.Leu1621Pro

Rare pervasive developmental disorder

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