ClinVar

NM_003119.4(SPG7):c.347C>A (p.Ser116Ter)

Gene:

SPG7:SPG7 matrix AAA peptidase subunit, paraplegin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89513008 (on Assembly GRCh38)
• Chr16: 89579416 (on Assembly GRCh37)

Preferred name:

NM_003119.4(SPG7):c.347C>A (p.Ser116Ter)

HGVS:

• NC_000016.10:g.89513008C>A
• NG_008082.1:g.9612C>A
• NM_001363850.1:c.347C>A
• NM_003119.4:c.347C>AMANE SELECT
• NM_199367.3:c.347C>A
• NP_001350779.1:p.Ser116Ter
• NP_003110.1:p.Ser116Ter
• NP_955399.1:p.Ser116Ter
• NC_000016.9:g.89579416C>A
• NM_003119.2:c.347C>A

This HGVS expression did not pass validation

Protein change:

S116*

Links:

dbSNP: rs149474131

NCBI 1000 Genomes Browser:

rs149474131

Molecular consequence:

• NM_001363850.1:c.347C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_003119.4:c.347C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_199367.3:c.347C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1