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Details for RELN:c.334T>C, p.Phe112Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103557525	103917078

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.334T>C

PROTEIN CHANGE

p.Phe112Leu

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
1.594e-05	0.0	0.0	0.0	0.0	0.0	3.527e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.920286	Polymorphism

DBSNP ID

1 combination linked to RELN:c.334T>C, p.Phe112Leu

1 disease linked to RELN:c.334T>C, p.Phe112Leu

Rare pervasive developmental disorder

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