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Details for SPAST:c.1212_1216del, p.Asn405LysfsTer36

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
32353514	32128445

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TTAATA

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1212_1216del

PROTEIN CHANGE

p.Asn405LysfsTer36

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
None	None	5.106418	Disease causing

DBSNP ID

1 combination linked to SPAST:c.1212_1216del, p.Asn405LysfsTer36

1 disease linked to SPAST:c.1212_1216del, p.Asn405LysfsTer36

Hereditary spastic paraplegia

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