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Details for RELN:c.6458G>A, p.Gly2153Asp

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103185636	103545189

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.6458G>A

PROTEIN CHANGE

p.Gly2153Asp

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
6.762e-05	0.001046	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.107905	Disease causing

DBSNP ID

1 combination linked to RELN:c.6458G>A, p.Gly2153Asp

1 disease linked to RELN:c.6458G>A, p.Gly2153Asp

Rare pervasive developmental disorder

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