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Details for SLC7A9:c.311G>A, p.Gly105Arg

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
33355167	32864261

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.311G>A

PROTEIN CHANGE

p.Gly105Arg

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	3.684249	Polymorphism

DBSNP ID

3 combinations linked to SLC7A9:c.311G>A, p.Gly105Arg

OLI166; OLI178; OLI179

1 disease linked to SLC7A9:c.311G>A, p.Gly105Arg

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