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Details for NSMF:c.188C>T, p.Pro63Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
140352299	137457847

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.188C>T

PROTEIN CHANGE

p.Pro63Leu

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.180971	Polymorphism

DBSNP ID

1 combination linked to NSMF:c.188C>T, p.Pro63Leu

1 disease linked to NSMF:c.188C>T, p.Pro63Leu

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