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Details for BSCL2:c.269C>T, p.Ser90Leu

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
62469965	62702493

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.269C>T

PROTEIN CHANGE

p.Ser90Leu

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
Deleterious	Possibly Damaging	4.071799	Disease causing

DBSNP ID

1 combination linked to BSCL2:c.269C>T, p.Ser90Leu

1 disease linked to BSCL2:c.269C>T, p.Ser90Leu

Hereditary spastic paraplegia

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