This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for SMAD1:c.738G>C, p.Met246Ile

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
146463813	145542661

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.738G>C

PROTEIN CHANGE

p.Met246Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0014	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.809e-05	0.0001237	5.92e-05	0.0	5.473e-05	0.0	1.769e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.944562	Polymorphism

DBSNP ID

1 combination linked to SMAD1:c.738G>C, p.Met246Ile

1 disease linked to SMAD1:c.738G>C, p.Met246Ile

Pulmonary arterial hypertension associated with congenital heart disease

Found any issues with the data on this page? Report this entry.