This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for TG:c.3665C>T, p.Ser1222Leu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133918963	132906718

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3665C>T

PROTEIN CHANGE

p.Ser1222Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0064	0.0015	0.0173	0.0169	0.0	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006238	0.0002462	0.03293	0.001091	0.02034	0.0	7.917e-05	0.00375	0.0002613

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.7192	Polymorphism

DBSNP ID

2 combinations linked to TG:c.3665C>T, p.Ser1222Leu

OLI1502; OLI1506

1 disease linked to TG:c.3665C>T, p.Ser1222Leu

Congenital hypothyroidism

Found any issues with the data on this page? Report this entry.