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NM_025137.3(SPG11):c.3075dupA (p.Glu1026Argfs) AND Spastic paraplegia 11, autosomal recessive

Significance: Pathogenic
ClinVar: RCV000001176

Variant: NM_025137.3(SPG11):c.3075dupA (p.Glu1026Argfs)

Type: Variant
Allele: NM_025137.3(SPG11):c.3075dupA (p.Glu1026Argfs) 16156
Gene:
Type: Duplication
Location: Chr15: 44905698 - assembly GRCh37
Chr15: 44613507 - assembly GRCh38
Chr15: 44613507 - assembly GRCh38
References: dbSNP: 312262752
OMIM: 610844.0009

Condition

Disease: Spastic paraplegia 11, autosomal recessive