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Details for RELN:c.2689G>A, p.Asp897Asn

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103270400	103629953

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2689G>A

PROTEIN CHANGE

p.Asp897Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.19e-05	0.0	2.893e-05	0.0	0.0002182	0.0	2.649e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.781704	Polymorphism

DBSNP ID

1 combination linked to RELN:c.2689G>A, p.Asp897Asn

1 disease linked to RELN:c.2689G>A, p.Asp897Asn

Rare pervasive developmental disorder

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