ClinVar

NM_000368.5(TSC1):c.110G>A (p.Arg37His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132927301 (on Assembly GRCh38)
• Chr9: 135802688 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.110G>A (p.Arg37His)

HGVS:

• NC_000009.12:g.132927301C>T
• NG_012386.1:g.22333G>A
• NM_000368.5:c.110G>AMANE SELECT
• NM_001162426.2:c.110G>A
• NM_001162427.2:c.110G>A
• NM_001362177.2:c.-154+1466G>A
• NP_000359.1:p.Arg37His
• NP_000359.1:p.Arg37His
• NP_001155898.1:p.Arg37His
• NP_001155899.1:p.Arg37His
• LRG_486t1:c.110G>A
• LRG_486:g.22333G>A
• LRG_486p1:p.Arg37His
• NC_000009.11:g.135802688C>T
• NM_000368.4:c.110G>A

This HGVS expression did not pass validation

Protein change:

R37H

Links:

dbSNP: rs750441497

NCBI 1000 Genomes Browser:

rs750441497

Molecular consequence:

• NM_001362177.2:c.-154+1466G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000368.5:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]