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Details for RELN:c.7634C>T, p.Ala2545Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103162503	103522056

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.7634C>T

PROTEIN CHANGE

p.Ala2545Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002147	6.152e-05	0.0005204	0.0	0.0	0.0	0.0002901	0.0003258	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.732053	Disease causing

DBSNP ID

1 combination linked to RELN:c.7634C>T, p.Ala2545Val

1 disease linked to RELN:c.7634C>T, p.Ala2545Val

Rare pervasive developmental disorder

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