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Details for TKTL1:c.958A>G, p.Thr320Ala

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
153543616	154315266

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.958A>G

PROTEIN CHANGE

p.Thr320Ala

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0003	0.0	0.0	0.0	0.0013	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
9.265e-05	0.0	7.293e-05	0.0	7.214e-05	0.0001874	0.000122	0.0002207	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	2.657226	Polymorphism

DBSNP ID

1 combination linked to TKTL1:c.958A>G, p.Thr320Ala

1 disease linked to TKTL1:c.958A>G, p.Thr320Ala

Isolated spina bifida

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