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Details for TG:c.6130C>T, p.Arg2044Cys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133984917	132972672

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.6130C>T

PROTEIN CHANGE

p.Arg2044Cys

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
3.581e-05	0.0002461	0.0	0.0	5.439e-05	0.0001848	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.382658	Polymorphism

DBSNP ID

1 combination linked to TG:c.6130C>T, p.Arg2044Cys

1 disease linked to TG:c.6130C>T, p.Arg2044Cys

Congenital hypothyroidism

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