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Details for SPG11:c.6100C>T, p.Arg2034Ter

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
44865850	44573652

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.6100C>T

PROTEIN CHANGE

p.Arg2034Ter

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
3.978e-06	0.0	0.0	0.0	0.0	0.0	8.798e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.936959	Disease causing

DBSNP ID

1 combination linked to SPG11:c.6100C>T, p.Arg2034Ter

1 disease linked to SPG11:c.6100C>T, p.Arg2034Ter

Osteopetrosis,Mental retardation,Short stature,Spastic paraparesis

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