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Details for IFT172:c.3130C>T, p.Arg1044Ter

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
27680604	27457737

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3130C>T

PROTEIN CHANGE

p.Arg1044Ter

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
1.193e-05	0.0	0.0	0.0	0.0	0.0	1.759e-05	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.182836	Disease causing

DBSNP ID

1 combination linked to IFT172:c.3130C>T, p.Arg1044Ter

1 disease linked to IFT172:c.3130C>T, p.Arg1044Ter

Transposition of the great arteries

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