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.5984A>G, p.Glu1995Gly

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133984047	132971802

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.5984A>G

PROTEIN CHANGE

p.Glu1995Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0006765	6.152e-05	0.0	0.0	0.0	0.004158	0.0006512	0.0008159	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.728468	Polymorphism

DBSNP ID

1 combination linked to TG:c.5984A>G, p.Glu1995Gly

1 disease linked to TG:c.5984A>G, p.Glu1995Gly

Congenital hypothyroidism

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