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Details for RELN:c.7538C>G, p.Ser2513Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103162599	103522152

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.7538C>G

PROTEIN CHANGE

p.Ser2513Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0032	0.0113	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.000839	0.01144	0.0005493	0.0	0.0	0.0	2.637e-05	0.0003258	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.883168	Polymorphism

DBSNP ID

1 combination linked to RELN:c.7538C>G, p.Ser2513Cys

1 disease linked to RELN:c.7538C>G, p.Ser2513Cys

Rare pervasive developmental disorder

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