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Details for CYB5A:c.289-5G>C,

CHROMOSOME

18

GENOMIC COORDINATES

hg19	hg38
71924093	74256858

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.289-5G>C

PROTEIN CHANGE

None

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
0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	1.295347	Polymorphism

DBSNP ID

1 combination linked to CYB5A:c.289-5G>C,

1 disease linked to CYB5A:c.289-5G>C,

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