ClinVar

NM_014946.4(SPAST):c.10C>T (p.Pro4Ser)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32063841 (on Assembly GRCh38)
• Chr2: 32288910 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.10C>T (p.Pro4Ser)

Other names:

p.Pro4Ser

HGVS:

• NC_000002.12:g.32063841C>T
• NG_008730.1:g.5231C>T
• NM_001363823.2:c.10C>T
• NM_001363875.2:c.10C>T
• NM_001377959.1:c.10C>T
• NM_014946.4:c.10C>TMANE SELECT
• NM_199436.2:c.10C>T
• NP_001350752.1:p.Pro4Ser
• NP_001350804.1:p.Pro4Ser
• NP_001364888.1:p.Pro4Ser
• NP_055761.2:p.Pro4Ser
• NP_955468.1:p.Pro4Ser
• LRG_714t1:c.10C>T
• LRG_714:g.5231C>T
• NC_000002.11:g.32288910C>T
• NM_014946.3:c.10C>T

This HGVS expression did not pass validation

Protein change:

P4S

Links:

dbSNP: rs937319046

NCBI 1000 Genomes Browser:

rs937319046

Molecular consequence:

• NM_001363823.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.10C>T - missense variant - [Sequence Ontology: SO:0001583]