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Details for NSMF:c.1160-13C>T,

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140346900	137452448

VARIANT EFFECT

unknown

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1160-13C>T

PROTEIN CHANGE

None

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
9.202e-05	0.0	0.0	0.0	0.0	0.0	0.0001866	0.0001639	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	-0.377454	Disease causing

DBSNP ID

1 combination linked to NSMF:c.1160-13C>T,

1 disease linked to NSMF:c.1160-13C>T,

Kallmann syndrome

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