ClinVar

NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32127018 (on Assembly GRCh38)
• Chr2: 32352087 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)

HGVS:

• NC_000002.12:g.32127018T>A
• NG_008730.1:g.68408T>A
• NM_001363823.2:c.1166T>A
• NM_001363875.2:c.1070T>A
• NM_001377959.1:c.1073T>A
• NM_014946.4:c.1169T>AMANE SELECT
• NM_199436.2:c.1073T>A
• NP_001350752.1:p.Met389Lys
• NP_001350804.1:p.Met357Lys
• NP_001364888.1:p.Met358Lys
• NP_055761.2:p.Met390Lys
• NP_955468.1:p.Met358Lys
• LRG_714:g.68408T>A
• NC_000002.11:g.32352087T>A

This HGVS expression did not pass validation

Protein change:

M357K

Links:

dbSNP: rs1131691977

NCBI 1000 Genomes Browser:

rs1131691977

Molecular consequence:

• NM_001363823.2:c.1166T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1070T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1073T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1169T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1073T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1