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Details for SLC7A9:c.695A>G, p.Tyr232Cys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
33353033	32862127

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.695A>G

PROTEIN CHANGE

p.Tyr232Cys

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
0.0001074	0.0	0.0	0.0002977	0.0001087	0.0	0.0001934	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.710388	Disease causing

DBSNP ID

1 combination linked to SLC7A9:c.695A>G, p.Tyr232Cys

1 disease linked to SLC7A9:c.695A>G, p.Tyr232Cys

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