ClinVar

NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132906118 (on Assembly GRCh38)
• Chr9: 135781505 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)

Other names:

p.S487C:TCT>TGT

HGVS:

• NC_000009.12:g.132906118G>C
• NG_012386.1:g.43516C>G
• NM_000368.5:c.1460C>GMANE SELECT
• NM_001162426.2:c.1457C>G
• NM_001162427.2:c.1307C>G
• NM_001362177.2:c.1097C>G
• NP_000359.1:p.Ser487Cys
• NP_000359.1:p.Ser487Cys
• NP_001155898.1:p.Ser486Cys
• NP_001155899.1:p.Ser436Cys
• NP_001349106.1:p.Ser366Cys
• LRG_486t1:c.1460C>G
• LRG_486:g.43516C>G
• LRG_486p1:p.Ser487Cys
• NC_000009.11:g.135781505G>C
• NM_000368.3:c.1460C>G
• NM_000368.4:c.1460C>G
• p.(Ser487Cys)

This HGVS expression did not pass validation

Protein change:

S366C

Links:

Tuberous sclerosis database (TSC1): TSC1_00343; dbSNP: rs118203532

NCBI 1000 Genomes Browser:

rs118203532

Molecular consequence:

• NM_000368.5:c.1460C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.1457C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.1307C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.1097C>G - missense variant - [Sequence Ontology: SO:0001583]