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Details for RELN:c.455C>T, p.Thr152Ile

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
103474002	103833555

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.455C>T

PROTEIN CHANGE

p.Thr152Ile

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
3.98e-06	0.0	0.0	0.0	5.443e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.113258	Polymorphism

DBSNP ID

1 combination linked to RELN:c.455C>T, p.Thr152Ile

1 disease linked to RELN:c.455C>T, p.Thr152Ile

Kallmann syndrome

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