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Details for TG:c.6844_6847del, p.Leu2282IlefsTer61

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
134031903	133019658

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

ATTGT

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6844_6847del

PROTEIN CHANGE

p.Leu2282IlefsTer61

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
7.953e-06	0.0	2.891e-05	0.0	0.0	0.0	0.0	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.111739	Disease causing

DBSNP ID

1 combination linked to TG:c.6844_6847del, p.Leu2282IlefsTer61

1 disease linked to TG:c.6844_6847del, p.Leu2282IlefsTer61

Congenital hypothyroidism

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