ClinVar

NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132896587 (on Assembly GRCh38)
• Chr9: 135771974 (on Assembly GRCh37)

Preferred name:

NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)

HGVS:

• NC_000009.12:g.132896587G>A
• NG_012386.1:g.53047C>T
• NM_000368.5:c.3143C>TMANE SELECT
• NM_001162426.2:c.3140C>T
• NM_001162427.2:c.2990C>T
• NM_001362177.2:c.2780C>T
• NP_000359.1:p.Pro1048Leu
• NP_000359.1:p.Pro1048Leu
• NP_001155898.1:p.Pro1047Leu
• NP_001155899.1:p.Pro997Leu
• NP_001349106.1:p.Pro927Leu
• LRG_486t1:c.3143C>T
• LRG_486:g.53047C>T
• LRG_486p1:p.Pro1048Leu
• NC_000009.11:g.135771974G>A
• NM_000368.4:c.3143C>T

This HGVS expression did not pass validation

Protein change:

P1047L

Links:

dbSNP: rs1203864892

NCBI 1000 Genomes Browser:

rs1203864892

Molecular consequence:

• NM_000368.5:c.3143C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162426.2:c.3140C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001162427.2:c.2990C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362177.2:c.2780C>T - missense variant - [Sequence Ontology: SO:0001583]