ClinVar

NM_000368.5(TSC1):c.479G>A (p.Arg160His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132923377 (on Assembly GRCh38)
• Chr9: 135798764 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.479G>A (p.Arg160His)

HGVS:

• NC_000009.12:g.132923377C>T
• NG_012386.1:g.26257G>A
• NM_000368.5:c.479G>AMANE SELECT
• NM_001162426.2:c.479G>A
• NM_001162427.2:c.326G>A
• NM_001362177.2:c.116G>A
• NP_000359.1:p.Arg160His
• NP_000359.1:p.Arg160His
• NP_001155898.1:p.Arg160His
• NP_001155899.1:p.Arg109His
• NP_001349106.1:p.Arg39His
• LRG_486t1:c.479G>A
• LRG_486:g.26257G>A
• LRG_486p1:p.Arg160His
• NC_000009.11:g.135798764C>T
• NM_000368.4:c.479G>A

This HGVS expression did not pass validation

Protein change:

R109H

Links:

dbSNP: rs749979841

NCBI 1000 Genomes Browser:

rs749979841

Molecular consequence:

• NM_000368.5:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1