ClinVar

NM_014946.4(SPAST):c.1104C>G (p.Phe368Leu)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32126953 (on Assembly GRCh38)
• Chr2: 32352022 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1104C>G (p.Phe368Leu)

HGVS:

• NC_000002.12:g.32126953C>G
• NG_008730.1:g.68343C>G
• NM_001363823.2:c.1101C>G
• NM_001363875.2:c.1005C>G
• NM_001377959.1:c.1008C>G
• NM_014946.4:c.1104C>GMANE SELECT
• NM_199436.2:c.1008C>G
• NP_001350752.1:p.Phe367Leu
• NP_001350804.1:p.Phe335Leu
• NP_001364888.1:p.Phe336Leu
• NP_055761.2:p.Phe368Leu
• NP_955468.1:p.Phe336Leu
• LRG_714:g.68343C>G
• NC_000002.11:g.32352022C>G

This HGVS expression did not pass validation

Protein change:

F335L

Links:

dbSNP: rs370845582

NCBI 1000 Genomes Browser:

rs370845582

Molecular consequence:

• NM_001363823.2:c.1101C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1005C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1008C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1104C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1008C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1