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Details for SLC22A5:c.77G>A, p.Ser26Asn

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
131705741	132370049

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.77G>A

PROTEIN CHANGE

p.Ser26Asn

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
1.205e-05	0.0	0.0	0.0	0.0	0.0	2.673e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.529352	Disease causing

DBSNP ID

1 combination linked to SLC22A5:c.77G>A, p.Ser26Asn

1 disease linked to SLC22A5:c.77G>A, p.Ser26Asn

Transposition of the great arteries

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