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NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) AND Spastic paraplegia 11, autosomal recessive

Significance: Pathogenic
ClinVar: RCV000001171

Variant: NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs)

Type: Variant
Allele: NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) 16151
Gene:
Type: Deletion
Location: Chr15: 44949428 - 44949429 - assembly GRCh37
Chr15: 44657230 - 44657231 - assembly GRCh38
References: dbSNP: 312262720
OMIM: 610844.0004

Condition

Disease: Spastic paraplegia 11, autosomal recessive