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Details for TYRO3:c.2075C>G, p.Ser692Cys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
41865595	41573397

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2075C>G

PROTEIN CHANGE

p.Ser692Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.001	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.386e-05	0.0	0.0	0.0	0.0003262	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.144098	Disease causing

DBSNP ID

1 combination linked to TYRO3:c.2075C>G, p.Ser692Cys

1 disease linked to TYRO3:c.2075C>G, p.Ser692Cys

Normosmic congenital hypogonadotropic hypogonadism

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