ClinVar

NM_000368.5(TSC1):c.*4233G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132892002 (on Assembly GRCh38)
• Chr9: 135767389 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.*4233G>T

HGVS:

• NC_000009.12:g.132892002C>A
• NG_012386.1:g.57632G>T
• NM_000368.5:c.*4233G>TMANE SELECT
• NM_001162426.2:c.*4233G>T
• NM_001162427.2:c.*4233G>T
• NM_001362177.2:c.*4233G>T
• LRG_486t1:c.*4233G>T
• LRG_486:g.57632G>T
• NC_000009.11:g.135767389C>A
• NM_000368.4:c.*4233G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs886063568

NCBI 1000 Genomes Browser:

rs886063568

Molecular consequence:

• NM_000368.5:c.*4233G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001162426.2:c.*4233G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001162427.2:c.*4233G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001362177.2:c.*4233G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]