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Details for TGFBI:c.2012-5T>C,

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
135398870	136063181

VARIANT EFFECT

splicing

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.2012-5T>C

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0029	0.0	0.003	0.0031

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003978	0.001228	0.0007829	9.946e-05	0.0001113	0.001857	0.00726	0.002813	0.002131

ESP
AA	EA
0.001276	0.007702

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.064678	Polymorphism

DBSNP ID

1 combination linked to TGFBI:c.2012-5T>C,

1 disease linked to TGFBI:c.2012-5T>C,

Disorder of sex development

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