ClinVar

NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32136589 (on Assembly GRCh38)
• Chr2: 32361658 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)

HGVS:

• NC_000002.12:g.32136589G>C
• NG_008730.1:g.77979G>C
• NM_001363823.2:c.1269G>C
• NM_001363875.2:c.1173G>C
• NM_001377959.1:c.1176G>C
• NM_014946.4:c.1272G>CMANE SELECT
• NM_199436.2:c.1176G>C
• NP_001350752.1:p.Arg423Ser
• NP_001350804.1:p.Arg391Ser
• NP_001364888.1:p.Arg392Ser
• NP_055761.2:p.Arg424Ser
• NP_055761.2:p.Arg424Ser
• NP_955468.1:p.Arg392Ser
• LRG_714t1:c.1272G>C
• LRG_714:g.77979G>C
• LRG_714p1:p.Arg424Ser
• NC_000002.11:g.32361658G>C
• NM_014946.3:c.1272G>C

This HGVS expression did not pass validation

Protein change:

R391S

Molecular consequence:

• NM_001363823.2:c.1269G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363875.2:c.1173G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377959.1:c.1176G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014946.4:c.1272G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_199436.2:c.1176G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1