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Details for SMO:c.431G>A, p.Arg144His

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
128843324	129203483

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.431G>A

PROTEIN CHANGE

p.Arg144His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0015	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001077	0.0003607	0.0003736	0.0	0.0	5.691e-05	2.003e-05	0.0005413	3.639e-05

ESP
AA	EA
0.0004539	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.312018	Disease causing

DBSNP ID

1 combination linked to SMO:c.431G>A, p.Arg144His

1 disease linked to SMO:c.431G>A, p.Arg144His

Transposition of the great arteries

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