ClinVar

NM_025137.4(SPG11):c.442+1G>C

Gene:

SPG11:SPG11 vesicle trafficking associated, spatacsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 44660431 (on Assembly GRCh38)
• Chr15: 44952629 (on Assembly GRCh37)

Preferred name:

NM_025137.4(SPG11):c.442+1G>C

HGVS:

• NC_000015.10:g.44660431C>G
• NG_008885.1:g.8248G>C
• NM_001160227.2:c.442+1G>C
• NM_001411132.1:c.442+1G>C
• NM_025137.4:c.442+1G>CMANE SELECT
• NC_000015.9:g.44952629C>G
• NM_025137.3:c.442+1G>C

This HGVS expression did not pass validation

Nucleotide change:

IVS2DS, G-C, +1

Links:

OMIM: 610844.0006; dbSNP: rs312262715

NCBI 1000 Genomes Browser:

rs312262715

Molecular consequence:

• NM_001160227.2:c.442+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001411132.1:c.442+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_025137.4:c.442+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

4