ClinVar

NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32127002 (on Assembly GRCh38)
• Chr2: 32352071 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1153G>A (p.Gly385Arg)

HGVS:

• NC_000002.12:g.32127002G>A
• NG_008730.1:g.68392G>A
• NM_001363823.2:c.1150G>A
• NM_001363875.2:c.1054G>A
• NM_001377959.1:c.1057G>A
• NM_014946.4:c.1153G>AMANE SELECT
• NM_199436.2:c.1057G>A
• NP_001350752.1:p.Gly384Arg
• NP_001350804.1:p.Gly352Arg
• NP_001364888.1:p.Gly353Arg
• NP_055761.2:p.Gly385Arg
• NP_055761.2:p.Gly385Arg
• NP_955468.1:p.Gly353Arg
• LRG_714t1:c.1153G>A
• LRG_714:g.68392G>A
• LRG_714p1:p.Gly385Arg
• NC_000002.11:g.32352071G>A
• NM_014946.3:c.1153G>A

This HGVS expression did not pass validation

Protein change:

G352R

Molecular consequence:

• NM_001363823.2:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1054G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]