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Details for TBCE:c.1537C>T, p.Gln513Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
235612030	235448715

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1537C>T

PROTEIN CHANGE

p.Gln513Ter

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
7.959e-06	0.0	0.0	0.0	0.0	0.0	1.761e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.912926	Disease causing

DBSNP ID

1 combination linked to TBCE:c.1537C>T, p.Gln513Ter

1 disease linked to TBCE:c.1537C>T, p.Gln513Ter

Hereditary spastic paraplegia

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