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Details for TSPAN12:c.535G>T, p.Asp179Tyr

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
120446680	120806626

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.535G>T

PROTEIN CHANGE

p.Asp179Tyr

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
Deleterious	Damaging	4.386272	Disease causing

DBSNP ID

1 combination linked to TSPAN12:c.535G>T, p.Asp179Tyr

1 disease linked to TSPAN12:c.535G>T, p.Asp179Tyr

Familial exudative vitreoretinopathy

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