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Details for NSMF:c.877A>C, p.Thr293Pro

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140348222	137453770

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.877A>C

PROTEIN CHANGE

p.Thr293Pro

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	3.939612	Disease causing

DBSNP ID

1 combination linked to NSMF:c.877A>C, p.Thr293Pro

1 disease linked to NSMF:c.877A>C, p.Thr293Pro

Normosmic congenital hypogonadotropic hypogonadism

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