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Details for SMAD4:c.424+5G>A,

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
48575235	51048865

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.424+5G>A

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002193	0.0001231	0.000145	0.0	0.0	0.0	0.0003793	0.0001644	0.0001307

ESP
AA	EA
0.000227	0.0002326

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.341568	Disease causing

DBSNP ID

1 combination linked to SMAD4:c.424+5G>A,

1 disease linked to SMAD4:c.424+5G>A,

Hereditary diffuse gastric cancer

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