ClinVar

NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 44584240 (on Assembly GRCh38)
• Chr15: 44876438 (on Assembly GRCh37)

Preferred name:

NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr)

HGVS:

• NC_000015.10:g.44584240T>A
• NG_008885.1:g.84439A>T
• NM_001160227.2:c.5440A>T
• NM_025137.4:c.5440A>TMANE SELECT
• NP_001153699.1:p.Asn1814Tyr
• NP_079413.3:p.Asn1814Tyr
• NC_000015.9:g.44876438T>A
• NM_025137.3:c.5440A>T

This HGVS expression did not pass validation

Protein change:

N1814Y

Links:

dbSNP: rs1567138592

NCBI 1000 Genomes Browser:

rs1567138592

Molecular consequence:

• NM_001160227.2:c.5440A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_025137.4:c.5440A>T - missense variant - [Sequence Ontology: SO:0001583]