ClinVar

NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)

Gene:

TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2062579 (on Assembly GRCh38)
• Chr16: 2112580 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)

HGVS:

• NC_000016.10:g.2062579C>T
• NG_005895.1:g.18274C>T
• NM_000548.5:c.1340C>TMANE SELECT
• NM_001077183.3:c.1340C>T
• NM_001114382.3:c.1340C>T
• NM_001318827.2:c.1229C>T
• NM_001318829.2:c.1193C>T
• NM_001318831.2:c.740C>T
• NM_001318832.2:c.1373C>T
• NM_001363528.2:c.1340C>T
• NM_001370404.1:c.1340C>T
• NM_001370405.1:c.1340C>T
• NM_021055.3:c.1340C>T
• NP_000539.2:p.Ala447Val
• NP_001070651.1:p.Ala447Val
• NP_001107854.1:p.Ala447Val
• NP_001305756.1:p.Ala410Val
• NP_001305758.1:p.Ala398Val
• NP_001305760.1:p.Ala247Val
• NP_001305761.1:p.Ala458Val
• NP_001350457.1:p.Ala447Val
• NP_001357333.1:p.Ala447Val
• NP_001357334.1:p.Ala447Val
• NP_066399.2:p.Ala447Val
• LRG_487t1:c.1340C>T
• LRG_487:g.18274C>T
• NC_000016.9:g.2112580C>T
• NM_000548.3:c.1340C>T
• p.(Ala447Val)

This HGVS expression did not pass validation

Protein change:

A247V

Links:

Tuberous sclerosis database (TSC2): TSC2_00394; dbSNP: rs45486591

NCBI 1000 Genomes Browser:

rs45486591

Molecular consequence:

• NM_000548.5:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.1193C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.740C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.1373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.1340C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1