ClinVar

NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32141905 (on Assembly GRCh38)
• Chr2: 32366974 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)

HGVS:

• NC_000002.12:g.32141905C>T
• NG_008730.1:g.83295C>T
• NM_001363823.2:c.1492C>T
• NM_001363875.2:c.1396C>T
• NM_001377959.1:c.1399C>T
• NM_014946.4:c.1495C>TMANE SELECT
• NM_199436.2:c.1399C>T
• NP_001350752.1:p.Arg498Cys
• NP_001350804.1:p.Arg466Cys
• NP_001364888.1:p.Arg467Cys
• NP_055761.2:p.Arg499Cys
• NP_055761.2:p.Arg499Cys
• NP_955468.1:p.Arg467Cys
• LRG_714t1:c.1495C>T
• LRG_714:g.83295C>T
• LRG_714p1:p.Arg499Cys
• NC_000002.11:g.32366974C>T
• NM_014946.3:c.1495C>T
• Q9UBP0:p.Arg499Cys

This HGVS expression did not pass validation

Protein change:

R466C; ARG499CYS

Links:

UniProtKB: Q9UBP0#VAR_010198; OMIM: 604277.0004; dbSNP: rs121908511

NCBI 1000 Genomes Browser:

rs121908511

Molecular consequence:

• NM_001363823.2:c.1492C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1396C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1399C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1495C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1399C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1