ClinVar

NM_014946.4(SPAST):c.1125C>T (p.Ala375=)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32126974 (on Assembly GRCh38)
• Chr2: 32352043 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1125C>T (p.Ala375=)

HGVS:

• NC_000002.12:g.32126974C>T
• NG_008730.1:g.68364C>T
• NM_001363823.2:c.1122C>T
• NM_001363875.2:c.1026C>T
• NM_001377959.1:c.1029C>T
• NM_014946.4:c.1125C>TMANE SELECT
• NM_199436.2:c.1029C>T
• NP_001350752.1:p.Ala374=
• NP_001350804.1:p.Ala342=
• NP_001364888.1:p.Ala343=
• NP_055761.2:p.Ala375=
• NP_055761.2:p.Ala375=
• NP_955468.1:p.Ala343=
• LRG_714t1:c.1125C>T
• LRG_714:g.68364C>T
• LRG_714p1:p.Ala375=
• NC_000002.11:g.32352043C>T
• NM_014946.3:c.1125C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs62142114

NCBI 1000 Genomes Browser:

rs62142114

Molecular consequence:

• NM_001363823.2:c.1122C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363875.2:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001377959.1:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014946.4:c.1125C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_199436.2:c.1029C>T - synonymous variant - [Sequence Ontology: SO:0001819]