ClinVar

NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132912386 (on Assembly GRCh38)
• Chr9: 135787773 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)

HGVS:

• NC_000009.12:g.132912386G>A
• NG_012386.1:g.37248C>T
• NM_000368.5:c.809C>TMANE SELECT
• NM_001162426.2:c.809C>T
• NM_001162427.2:c.656C>T
• NM_001362177.2:c.446C>T
• NP_000359.1:p.Ser270Leu
• NP_000359.1:p.Ser270Leu
• NP_001155898.1:p.Ser270Leu
• NP_001155899.1:p.Ser219Leu
• NP_001349106.1:p.Ser149Leu
• LRG_486t1:c.809C>T
• LRG_486:g.37248C>T
• LRG_486p1:p.Ser270Leu
• NC_000009.11:g.135787773G>A
• NM_000368.4:c.809C>T

This HGVS expression did not pass validation

Protein change:

S149L

Links:

dbSNP: rs878853968

NCBI 1000 Genomes Browser:

rs878853968

Molecular consequence:

• NM_000368.5:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.809C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.656C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.446C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1