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Details for RELN:c.3651C>G, p.Ile1217Met

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103234828	103594381

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.3651C>G

PROTEIN CHANGE

p.Ile1217Met

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002465	0.0006767	0.0006653	0.0004967	5.44e-05	0.0005543	0.004743	0.001469	0.0006533

ESP
AA	EA
0.0004539	0.004884

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.000205	Polymorphism

DBSNP ID

1 combination linked to RELN:c.3651C>G, p.Ile1217Met

1 disease linked to RELN:c.3651C>G, p.Ile1217Met

Primary ovarian failure

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