ClinVar

NM_000368.5(TSC1):c.1323C>T (p.Asp441=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132907311 (on Assembly GRCh38)
• Chr9: 135782698 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.1323C>T (p.Asp441=)

HGVS:

• NC_000009.12:g.132907311G>A
• NG_012386.1:g.42323C>T
• NM_000368.5:c.1323C>TMANE SELECT
• NM_001162426.2:c.1320C>T
• NM_001162427.2:c.1170C>T
• NM_001362177.2:c.960C>T
• NP_000359.1:p.Asp441=
• NP_001155898.1:p.Asp440=
• NP_001155899.1:p.Asp390=
• NP_001349106.1:p.Asp320=
• LRG_486:g.42323C>T
• NC_000009.11:g.135782698G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2131879178

NCBI 1000 Genomes Browser:

rs2131879178

Molecular consequence:

• NM_000368.5:c.1323C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162426.2:c.1320C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001162427.2:c.1170C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362177.2:c.960C>T - synonymous variant - [Sequence Ontology: SO:0001819]