ClinVar

NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132911481 (on Assembly GRCh38)
• Chr9: 135786868 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)

HGVS:

• NC_000009.12:g.132911481G>A
• NG_012386.1:g.38153C>T
• NM_000368.5:c.1001C>TMANE SELECT
• NM_001162426.2:c.1001C>T
• NM_001162427.2:c.848C>T
• NM_001362177.2:c.638C>T
• NP_000359.1:p.Ser334Leu
• NP_000359.1:p.Ser334Leu
• NP_001155898.1:p.Ser334Leu
• NP_001155899.1:p.Ser283Leu
• NP_001349106.1:p.Ser213Leu
• LRG_486t1:c.1001C>T
• LRG_486:g.38153C>T
• LRG_486p1:p.Ser334Leu
• NC_000009.11:g.135786868G>A
• NM_000368.3:c.1001C>T
• NM_000368.4:c.1001C>T
• p.(Ser334Leu)

This HGVS expression did not pass validation

Protein change:

S213L

Links:

Tuberous sclerosis database (TSC1): TSC1_00279; dbSNP: rs118203481

NCBI 1000 Genomes Browser:

rs118203481

Molecular consequence:

• NM_000368.5:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.848C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

41