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Details for RELT:c.260A>T, p.Asp87Val

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
73101939	73390894

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.260A>T

PROTEIN CHANGE

p.Asp87Val

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
3.995e-06	0.0	2.91e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.388293	Disease causing

DBSNP ID

1 combination linked to RELT:c.260A>T, p.Asp87Val

1 disease linked to RELT:c.260A>T, p.Asp87Val

Amelogenesis imperfecta

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