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Details for COMT:c.425_426insT, p.Trp143LeufsTer27

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
19951782	19964259

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AT

TRANSCRIPT

CDNA CHANGE

c.425_426insT

PROTEIN CHANGE

p.Trp143LeufsTer27

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	3.769862	Disease causing

DBSNP ID

1 combination linked to COMT:c.425_426insT, p.Trp143LeufsTer27

1 disease linked to COMT:c.425_426insT, p.Trp143LeufsTer27

Bardet-Biedl syndrome

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