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Details for TG:c.6759_6765del, p.Ser2254MetfsTer88

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
134030218	133017973

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GCTCCTGG

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.6759_6765del

PROTEIN CHANGE

p.Ser2254MetfsTer88

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	6.099409	Disease causing

DBSNP ID

1 combination linked to TG:c.6759_6765del, p.Ser2254MetfsTer88

1 disease linked to TG:c.6759_6765del, p.Ser2254MetfsTer88

Congenital hypothyroidism

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