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Details for SQSTM1:c.374A>G, p.Asn125Ser

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
179250930	179823930

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.374A>G

PROTEIN CHANGE

p.Asn125Ser

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
3.187e-05	0.0	0.0	0.0	0.0002176	9.306e-05	1.762e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.401117	Polymorphism

DBSNP ID

1 combination linked to SQSTM1:c.374A>G, p.Asn125Ser

1 disease linked to SQSTM1:c.374A>G, p.Asn125Ser

Hypogonadotropic hypogonadism with absent puberty phenotype

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