ClinVar

NM_014946.4(SPAST):c.502+70TATT[6]

Gene:

SPAST:spastin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32087647 - 32087648 (on Assembly GRCh38)
• Chr2: 32312716 - 32312717 (on Assembly GRCh37)

Preferred name:

NM_014946.4(SPAST):c.502+70TATT[6]

HGVS:

• NC_000002.12:g.32087649ATTT[6]
• NG_008730.1:g.29039ATTT[6]
• NM_001363823.2:c.499+70TATT[6]
• NM_001363875.2:c.499+70TATT[6]
• NM_001377959.1:c.502+70TATT[6]
• NM_014946.4:c.502+70TATT[6]MANE SELECT
• NM_199436.2:c.502+70TATT[6]
• LRG_714:g.29039ATTT[6]
• NC_000002.11:g.32312718ATTT[6]

This HGVS expression did not pass validation

Links:

dbSNP: rs202142071

NCBI 1000 Genomes Browser:

rs202142071

Molecular consequence:

• NM_001363823.2:c.499+70TATT[6] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363875.2:c.499+70TATT[6] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001377959.1:c.502+70TATT[6] - intron variant - [Sequence Ontology: SO:0001627]
• NM_014946.4:c.502+70TATT[6] - intron variant - [Sequence Ontology: SO:0001627]
• NM_199436.2:c.502+70TATT[6] - intron variant - [Sequence Ontology: SO:0001627]