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Details for RELN:c.2015C>T, p.Pro672Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103281044	103640597

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2015C>T

PROTEIN CHANGE

p.Pro672Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001595	0.0	5.788e-05	0.0	0.0	0.0001388	0.0003001	0.0001634	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.250874	Disease causing

DBSNP ID

1 combination linked to RELN:c.2015C>T, p.Pro672Leu

1 disease linked to RELN:c.2015C>T, p.Pro672Leu

Primary ovarian failure

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