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Details for NSMF:c.587G>A, p.Arg196His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140351900	137457448

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.587G>A

PROTEIN CHANGE

p.Arg196His

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
1.615e-05	0.0	0.0	0.0	0.0	0.0	3.61e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.192767	Polymorphism

DBSNP ID

1 combination linked to NSMF:c.587G>A, p.Arg196His

1 disease linked to NSMF:c.587G>A, p.Arg196His

Kallmann syndrome

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