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Details for GRIN2C:c.193C>T, p.Leu65Phe

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
72851039	74854900

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.193C>T

PROTEIN CHANGE

p.Leu65Phe

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
Tolerated	Benign	None	Polymorphism

DBSNP ID

1 combination linked to GRIN2C:c.193C>T, p.Leu65Phe

1 disease linked to GRIN2C:c.193C>T, p.Leu65Phe

Rare pervasive developmental disorder

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