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Details for TRAPPC9:c.1532C>T, p.Thr511Met

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
141321437	140311338

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1532C>T

PROTEIN CHANGE

p.Thr511Met

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
2.387e-05	0.0	0.0	0.0	0.0	0.0	5.275e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.925261	Disease causing

DBSNP ID

1 combination linked to TRAPPC9:c.1532C>T, p.Thr511Met

1 disease linked to TRAPPC9:c.1532C>T, p.Thr511Met

Normosmic congenital hypogonadotropic hypogonadism

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