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Details for LRIF1:c.1240A>G, p.Ile414Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
111494266	110951644

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1240A>G

PROTEIN CHANGE

p.Ile414Val

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
Deleterious	Benign	2.09135	Polymorphism

DBSNP ID

1 combination linked to LRIF1:c.1240A>G, p.Ile414Val

1 disease linked to LRIF1:c.1240A>G, p.Ile414Val

Rare pervasive developmental disorder

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