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Details for NBAS:c.4228A>G, p.Thr1410Ala

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
15470841	15330717

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.4228A>G

PROTEIN CHANGE

p.Thr1410Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0	0.0	0.002	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001417	0.0002461	0.0001446	0.0008937	0.0	0.000924	0.002684	0.00163	9.799e-05

ESP
AA	EA
0.000227	0.001628

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.800429	Polymorphism

DBSNP ID

1 combination linked to NBAS:c.4228A>G, p.Thr1410Ala

1 disease linked to NBAS:c.4228A>G, p.Thr1410Ala

Odontochondrodysplasia

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