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Details for MEN1:c.578C>T, p.Pro193Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
64575454	64807982

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.578C>T

PROTEIN CHANGE

p.Pro193Leu

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
6.365e-05	0.0	2.891e-05	0.0	0.0	0.0	0.000132	0.0	0.0

ESP
AA	EA
0.0	0.0002327

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	3.031874	Disease causing

DBSNP ID

1 combination linked to MEN1:c.578C>T, p.Pro193Leu

1 disease linked to MEN1:c.578C>T, p.Pro193Leu

Craniorachischisis

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