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Details for TG:c.2060delG, p.Cys687LeufsTer34

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
133899676	132887431

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

TG

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2060delG

PROTEIN CHANGE

p.Cys687LeufsTer34

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.028792	Disease causing

DBSNP ID

1 combination linked to TG:c.2060delG, p.Cys687LeufsTer34

1 disease linked to TG:c.2060delG, p.Cys687LeufsTer34

Congenital hypothyroidism

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