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Details for RELN:c.3477C>A, p.Asn1159Lys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103236965	103596518

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3477C>A

PROTEIN CHANGE

p.Asn1159Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0014	0.0	0.004	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001625	0.0004307	0.0009264	0.003874	0.0	0.0001386	0.002292	0.001959	0.001797

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.17766	Polymorphism

DBSNP ID

1 combination linked to RELN:c.3477C>A, p.Asn1159Lys

1 disease linked to RELN:c.3477C>A, p.Asn1159Lys

Rare pervasive developmental disorder

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