ClinVar

NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132903665 (on Assembly GRCh38)
• Chr9: 135779052 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)

Other names:

p.H732Y:CAT>TAT

HGVS:

• NC_000009.12:g.132903665G>A
• NG_012386.1:g.45969C>T
• NM_000368.5:c.2194C>TMANE SELECT
• NM_001162426.2:c.2191C>T
• NM_001162427.2:c.2041C>T
• NM_001362177.2:c.1831C>T
• NP_000359.1:p.His732Tyr
• NP_000359.1:p.His732Tyr
• NP_001155898.1:p.His731Tyr
• NP_001155899.1:p.His681Tyr
• NP_001349106.1:p.His611Tyr
• LRG_486t1:c.2194C>T
• LRG_486:g.45969C>T
• LRG_486p1:p.His732Tyr
• NC_000009.11:g.135779052G>A
• NM_000368.1:c.2194C>T
• NM_000368.3:c.2194C>T
• NM_000368.4:c.2194C>T
• Q92574:p.His732Tyr
• p.H732Y
• p.(His732Tyr)

This HGVS expression did not pass validation

Protein change:

H611Y; HIS732TYR

Links:

Tuberous sclerosis database (TSC1): TSC1_00144; UniProtKB: Q92574#VAR_009409; OMIM: 605284.0007; dbSNP: rs118203657

NCBI 1000 Genomes Browser:

rs118203657

Molecular consequence:

• NM_000368.5:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.2191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.2041C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.1831C>T - missense variant - [Sequence Ontology: SO:0001583]