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Details for TYRO3:c.1025G>A, p.Trp342Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
41860478	41568280

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1025G>A

PROTEIN CHANGE

p.Trp342Ter

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
None	None	7.70757	Disease causing

DBSNP ID

1 combination linked to TYRO3:c.1025G>A, p.Trp342Ter

1 disease linked to TYRO3:c.1025G>A, p.Trp342Ter

Hypogonadotropic hypogonadism with absent puberty phenotype

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