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Details for ERCC5:c.2383G>A, p.Ala795Thr

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
103519045	102866695

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.2383G>A

PROTEIN CHANGE

p.Ala795Thr

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
2.785e-05	0.0	0.0	0.0	0.0	0.0	6.159e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.30949	Disease causing

DBSNP ID

1 combination linked to ERCC5:c.2383G>A, p.Ala795Thr

1 disease linked to ERCC5:c.2383G>A, p.Ala795Thr

Transposition of the great arteries

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