ClinVar

NM_014946.4(SPAST):c.1A>G (p.Met1Val)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32063832 (on Assembly GRCh38)
• Chr2: 32288901 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1A>G (p.Met1Val)

HGVS:

• NC_000002.12:g.32063832A>G
• NG_008730.1:g.5222A>G
• NG_094904.1:g.465A>G
• NM_001363823.2:c.1A>G
• NM_001363875.2:c.1A>G
• NM_001377959.1:c.1A>G
• NM_014946.4:c.1A>GMANE SELECT
• NM_199436.2:c.1A>G
• NP_001350752.1:p.Met1Val
• NP_001350804.1:p.Met1Val
• NP_001364888.1:p.Met1Val
• NP_055761.2:p.Met1Val
• NP_055761.2:p.Met1Val
• NP_955468.1:p.Met1Val
• LRG_714t1:c.1A>G
• LRG_714:g.5222A>G
• LRG_714p1:p.Met1Val
• NC_000002.11:g.32288901A>G
• NM_014946.3:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V

Molecular consequence:

• NM_001363823.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001363875.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001377959.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_014946.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_199436.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001363823.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]