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Details for RELN:c.4441A>C, p.Lys1481Gln

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103214609	103574162

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.4441A>C

PROTEIN CHANGE

p.Lys1481Gln

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.421574	Polymorphism

DBSNP ID

8 combinations linked to RELN:c.4441A>C, p.Lys1481Gln

OLI872; OLI875; OLI876; OLI877; OLI878; OLI900; OLI901; OLI905

2 diseases linked to RELN:c.4441A>C, p.Lys1481Gln

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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