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Details for TBCE:c.661G>C, p.Val221Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
235597519	235434204

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.661G>C

PROTEIN CHANGE

p.Val221Leu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.655356	Polymorphism

DBSNP ID

1 combination linked to TBCE:c.661G>C, p.Val221Leu

1 disease linked to TBCE:c.661G>C, p.Val221Leu

Hereditary spastic paraplegia

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