ClinVar

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2064275 (on Assembly GRCh38)
• Chr16: 2114276 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)

HGVS:

• NC_000016.10:g.2064275G>T
• NG_005895.1:g.19970G>T
• NM_000548.5:c.1447G>TMANE SELECT
• NM_001077183.3:c.1447G>T
• NM_001114382.3:c.1447G>T
• NM_001318827.2:c.1336G>T
• NM_001318829.2:c.1300G>T
• NM_001318831.2:c.847G>T
• NM_001318832.2:c.1480G>T
• NM_001363528.2:c.1447G>T
• NM_001370404.1:c.1447G>T
• NM_001370405.1:c.1447G>T
• NM_021055.3:c.1447G>T
• NP_000539.2:p.Glu483Ter
• NP_001070651.1:p.Glu483Ter
• NP_001107854.1:p.Glu483Ter
• NP_001305756.1:p.Glu446Ter
• NP_001305758.1:p.Glu434Ter
• NP_001305760.1:p.Glu283Ter
• NP_001305761.1:p.Glu494Ter
• NP_001350457.1:p.Glu483Ter
• NP_001357333.1:p.Glu483Ter
• NP_001357334.1:p.Glu483Ter
• NP_066399.2:p.Glu483Ter
• LRG_487t1:c.1447G>T
• LRG_487:g.19970G>T
• NC_000016.9:g.2114276G>T
• NM_000548.3:c.1447G>T
• p.(Glu483*)

This HGVS expression did not pass validation

Protein change:

E283*

Links:

Tuberous sclerosis database (TSC2): TSC2_02030; dbSNP: rs397515297

NCBI 1000 Genomes Browser:

rs397515297

Molecular consequence:

• NM_000548.5:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001077183.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001114382.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318827.2:c.1336G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318829.2:c.1300G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318831.2:c.847G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318832.2:c.1480G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001363528.2:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370404.1:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370405.1:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_021055.3:c.1447G>T - nonsense - [Sequence Ontology: SO:0001587]