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Details for TG:c.3808C>T, p.Arg1270Cys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133919106	132906861

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3808C>T

PROTEIN CHANGE

p.Arg1270Cys

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
0.0001526	0.0001258	5.809e-05	0.0	0.001692	0.0	2.665e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.774945	Polymorphism

DBSNP ID

2 combinations linked to TG:c.3808C>T, p.Arg1270Cys

OLI1807; OLI994

1 disease linked to TG:c.3808C>T, p.Arg1270Cys

Congenital hypothyroidism

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