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Details for TG:c.3067C>T, p.Pro1023Trp

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133909959	132897714

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3067C>T

PROTEIN CHANGE

p.Pro1023Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.988e-05	0.000123	0.0	0.0	0.0	0.0	2.638e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.779045	Polymorphism

DBSNP ID

1 combination linked to TG:c.3067C>T, p.Pro1023Trp

1 disease linked to TG:c.3067C>T, p.Pro1023Trp

Congenital hypothyroidism

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