ClinVar

NM_000368.5(TSC1):c.915G>T (p.Gly305=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132911567 (on Assembly GRCh38)
• Chr9: 135786954 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.915G>T (p.Gly305=)

HGVS:

• NC_000009.12:g.132911567C>A
• NG_012386.1:g.38067G>T
• NM_000368.5:c.915G>TMANE SELECT
• NM_001162426.2:c.915G>T
• NM_001162427.2:c.762G>T
• NM_001362177.2:c.552G>T
• NP_000359.1:p.Gly305=
• NP_001155898.1:p.Gly305=
• NP_001155899.1:p.Gly254=
• NP_001349106.1:p.Gly184=
• LRG_486t1:c.915G>T
• LRG_486:g.38067G>T
• NC_000009.11:g.135786954C>A
• NM_000368.4:c.915G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs397515293

NCBI 1000 Genomes Browser:

rs397515293

Molecular consequence:

• NM_000368.5:c.915G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162426.2:c.915G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162427.2:c.762G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362177.2:c.552G>T - synonymous variant - [Sequence Ontology: SO:0001819]