ClinVar

NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)

Gene:

TSC1:TSC complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132902634 (on Assembly GRCh38)
• Chr9: 135778021 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)

HGVS:

• NC_000009.12:g.132902634C>A
• NG_012386.1:g.47000G>T
• NM_000368.5:c.2362G>TMANE SELECT
• NM_001162426.2:c.2359G>T
• NM_001162427.2:c.2209G>T
• NM_001362177.2:c.1999G>T
• NP_000359.1:p.Glu788Ter
• NP_000359.1:p.Glu788Ter
• NP_001155898.1:p.Glu787Ter
• NP_001155899.1:p.Glu737Ter
• NP_001349106.1:p.Glu667Ter
• LRG_486t1:c.2362G>T
• LRG_486:g.47000G>T
• LRG_486p1:p.Glu788Ter
• NC_000009.11:g.135778021C>A
• NM_000368.3:c.2362G>T
• NM_000368.4:c.2362G>T
• p.(Glu788*)

This HGVS expression did not pass validation

Protein change:

E667*

Links:

Tuberous sclerosis database (TSC1): TSC1_00157; dbSNP: rs118203685

NCBI 1000 Genomes Browser:

rs118203685

Molecular consequence:

• NM_000368.5:c.2362G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001162426.2:c.2359G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001162427.2:c.2209G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001362177.2:c.1999G>T - nonsense - [Sequence Ontology: SO:0001587]