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Details for RELN:c.5108C>G, p.Pro1703Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103205827	103565380

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.5108C>G

PROTEIN CHANGE

p.Pro1703Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0014	0.0008	0.0029	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003251	0.0007384	0.001824	0.001191	5.444e-05	0.006191	0.004741	0.00359	0.001111

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.994541	Polymorphism

DBSNP ID

3 combinations linked to RELN:c.5108C>G, p.Pro1703Arg

OLI1463; OLI1465; OLI1467

1 disease linked to RELN:c.5108C>G, p.Pro1703Arg

Rare pervasive developmental disorder

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