ClinVar

NM_014946.4(SPAST):c.1496G>A (p.Arg499His)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32141906 (on Assembly GRCh38)
• Chr2: 32366975 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1496G>A (p.Arg499His)

HGVS:

• NC_000002.12:g.32141906G>A
• NG_008730.1:g.83296G>A
• NM_001363823.2:c.1493G>A
• NM_001363875.2:c.1397G>A
• NM_001377959.1:c.1400G>A
• NM_014946.4:c.1496G>AMANE SELECT
• NM_199436.2:c.1400G>A
• NP_001350752.1:p.Arg498His
• NP_001350804.1:p.Arg466His
• NP_001364888.1:p.Arg467His
• NP_055761.2:p.Arg499His
• NP_055761.2:p.Arg499His
• NP_955468.1:p.Arg467His
• LRG_714t1:c.1496G>A
• LRG_714:g.83296G>A
• LRG_714p1:p.Arg499His
• NC_000002.11:g.32366975G>A
• NM_014946.3:c.1496G>A
• Q9UBP0:p.Arg499His

This HGVS expression did not pass validation

Protein change:

R466H

Links:

UniProtKB: Q9UBP0#VAR_026761; dbSNP: rs878854991

NCBI 1000 Genomes Browser:

rs878854991

Molecular consequence:

• NM_001363823.2:c.1493G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1400G>A - missense variant - [Sequence Ontology: SO:0001583]