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 TSTD2:c.1114G>T, p.Gly372Ter

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
100367147	97604865

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1114G>T

PROTEIN CHANGE

p.Gly372Ter

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
0.0003398	0.0	5.827e-05	0.0	0.0	4.629e-05	0.0007161	0.0001644	0.0

ESP
AA	EA
0.0	0.0009302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.7808	Disease causing

DBSNP ID

1 combination linked to TSTD2:c.1114G>T, p.Gly372Ter

1 disease linked to TSTD2:c.1114G>T, p.Gly372Ter

Overgrowth or tall stature syndrome with skeletal involvement

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