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Details for NSMF:c.533C>A, p.Thr178Asn

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140351954	137457502

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.533C>A

PROTEIN CHANGE

p.Thr178Asn

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
2.463e-05	0.0	0.0	0.0	0.0002208	0.0	0.0	0.0	6.588e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.212949	Polymorphism

DBSNP ID

1 combination linked to NSMF:c.533C>A, p.Thr178Asn

2 diseases linked to NSMF:c.533C>A, p.Thr178Asn

Normosmic congenital hypogonadotropic hypogonadism; CHARGE syndrome

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