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Details for SQSTM1:c.1088G>A, p.Gly363Glu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179260705	179833705

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1088G>A

PROTEIN CHANGE

p.Gly363Glu

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
0.000342	6.152e-05	0.002457	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.248127	Polymorphism

DBSNP ID

1 combination linked to SQSTM1:c.1088G>A, p.Gly363Glu

1 disease linked to SQSTM1:c.1088G>A, p.Gly363Glu

Hypogonadotropic hypogonadism with partial puberty phenotype

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