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Details for RELN:c.5023C>G, p.Pro1675Ala

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103205912	103565465

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.5023C>G

PROTEIN CHANGE

p.Pro1675Ala

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
2.792e-05	0.0	0.0	0.0	0.0002732	0.0	0.0	0.0	6.545e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.828482	Polymorphism

DBSNP ID

1 combination linked to RELN:c.5023C>G, p.Pro1675Ala

1 disease linked to RELN:c.5023C>G, p.Pro1675Ala

Kallmann syndrome

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