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Details for LIG4:c.833G>T, p.Val204Ile

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
108862784	108210436

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.833G>T

PROTEIN CHANGE

p.Val204Ile

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
Deleterious	Damaging	3.743877	Disease causing

DBSNP ID

1 combination linked to LIG4:c.833G>T, p.Val204Ile

1 disease linked to LIG4:c.833G>T, p.Val204Ile

Transposition of the great arteries

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