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Details for SMAD4:c.572C>T, p.Ser191Leu

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
48581268	51054898

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.572C>T

PROTEIN CHANGE

p.Ser191Leu

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
7.953e-06	0.0	0.0	0.0	5.437e-05	0.0	8.79e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.09949	Polymorphism

DBSNP ID

1 combination linked to SMAD4:c.572C>T, p.Ser191Leu

1 disease linked to SMAD4:c.572C>T, p.Ser191Leu

Non-acquired combined pituitary hormone deficiency

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