ClinVar

NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2084318 (on Assembly GRCh38)
• Chr16: 2134319 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)

HGVS:

• NC_000016.10:g.2084318G>T
• NG_005895.1:g.40013G>T
• NM_000548.5:c.4096G>TMANE SELECT
• NM_001077183.2:c.3895G>T
• NM_001114382.2:c.4027G>T
• NM_001318827.1:c.3787G>T
• NM_001318829.1:c.3751G>T
• NM_001318831.1:c.3364G>T
• NM_001318832.1:c.3928G>T
• NM_001363528.1:c.3898G>T
• NM_001370404.1:c.3964G>T
• NM_001370405.1:c.3967G>T
• NM_021055.2:c.3967G>T
• NP_000539.2:p.Glu1366Ter
• NP_001070651.1:p.Glu1299Ter
• NP_001107854.1:p.Glu1343Ter
• NP_001305756.1:p.Glu1263Ter
• NP_001305758.1:p.Glu1251Ter
• NP_001305760.1:p.Glu1122Ter
• NP_001305761.1:p.Glu1310Ter
• NP_001350457.1:p.Glu1300Ter
• NP_001357333.1:p.Glu1322Ter
• NP_001357334.1:p.Glu1323Ter
• NP_066399.2:p.Glu1323Ter
• LRG_487t1:c.4096G>T
• LRG_487:g.40013G>T
• NC_000016.9:g.2134319G>T
• NM_000548.3:c.4096G>T
• p.(Glu1366*)

This HGVS expression did not pass validation

Protein change:

E1122*

Links:

Tuberous sclerosis database (TSC2): TSC2_00557; dbSNP: rs45517327

NCBI 1000 Genomes Browser:

rs45517327

Molecular consequence:

• NM_000548.5:c.4096G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001077183.2:c.3895G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001114382.2:c.4027G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318827.1:c.3787G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318829.1:c.3751G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318831.1:c.3364G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001318832.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001363528.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370404.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370405.1:c.3967G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_021055.2:c.3967G>T - nonsense - [Sequence Ontology: SO:0001587]