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Details for TG:c.2864delA, Glu955GlyfsTer11

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133906036	132893791

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GA

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2864delA

PROTEIN CHANGE

Glu955GlyfsTer11

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
3.977e-06	0.0	0.0	0.0	5.437e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.517447	Disease causing

DBSNP ID

1 combination linked to TG:c.2864delA, Glu955GlyfsTer11

1 disease linked to TG:c.2864delA, Glu955GlyfsTer11

Congenital hypothyroidism

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