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Details for RELN:c.6343G>A, p.Gly2115Ser

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103185751	103545304

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6343G>A

PROTEIN CHANGE

p.Gly2115Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.008	0.0287	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.00188	0.025	0.001128	0.0	0.0	9.239e-05	0.0001411	0.001142	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.608888	Polymorphism

DBSNP ID

1 combination linked to RELN:c.6343G>A, p.Gly2115Ser

1 disease linked to RELN:c.6343G>A, p.Gly2115Ser

Rare pervasive developmental disorder

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