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Details for RELN:c.5961G>T, p.Lys1987Asn

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103194115	103553668

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5961G>T

PROTEIN CHANGE

p.Lys1987Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.16e-05	0.001292	5.785e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.216925	Polymorphism

DBSNP ID

1 combination linked to RELN:c.5961G>T, p.Lys1987Asn

1 disease linked to RELN:c.5961G>T, p.Lys1987Asn

Rare pervasive developmental disorder

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