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Details for TG:c.5299_5301del, p.Asp1767del

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133961085	132948840

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GGAT

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.5299_5301del

PROTEIN CHANGE

p.Asp1767del

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0108	0.0401	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003361	0.04663	0.001937	0.0	0.0	0.0	3.518e-05	0.002119	9.799e-05

ESP
AA	EA
0.04339	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.016331	Polymorphism

DBSNP ID

1 combination linked to TG:c.5299_5301del, p.Asp1767del

1 disease linked to TG:c.5299_5301del, p.Asp1767del

Congenital hypothyroidism

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