ClinVar

NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2085264 (on Assembly GRCh38)
• Chr16: 2135265 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)

HGVS:

• NC_000016.10:g.2085264A>T
• NG_005895.1:g.40959A>T
• NM_000548.5:c.4604A>TMANE SELECT
• NM_001077183.3:c.4403A>T
• NM_001114382.3:c.4535A>T
• NM_001318827.2:c.4295A>T
• NM_001318829.2:c.4259A>T
• NM_001318831.2:c.3872A>T
• NM_001318832.2:c.4436A>T
• NM_001363528.2:c.4406A>T
• NM_001370404.1:c.4472A>T
• NM_001370405.1:c.4475A>T
• NM_021055.3:c.4475A>T
• NP_000539.2:p.Asp1535Val
• NP_001070651.1:p.Asp1468Val
• NP_001107854.1:p.Asp1512Val
• NP_001305756.1:p.Asp1432Val
• NP_001305758.1:p.Asp1420Val
• NP_001305760.1:p.Asp1291Val
• NP_001305761.1:p.Asp1479Val
• NP_001350457.1:p.Asp1469Val
• NP_001357333.1:p.Asp1491Val
• NP_001357334.1:p.Asp1492Val
• NP_066399.2:p.Asp1492Val
• LRG_487t1:c.4604A>T
• LRG_487:g.40959A>T
• NC_000016.9:g.2135265A>T
• NM_000548.3:c.4604A>T
• p.(Asp1535Val)

This HGVS expression did not pass validation

Protein change:

D1291V

Links:

Tuberous sclerosis database (TSC2): TSC2_01174; dbSNP: rs397515160

NCBI 1000 Genomes Browser:

rs397515160

Molecular consequence:

• NM_000548.5:c.4604A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077183.3:c.4403A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001114382.3:c.4535A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318827.2:c.4295A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318829.2:c.4259A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318831.2:c.3872A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318832.2:c.4436A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363528.2:c.4406A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370404.1:c.4472A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370405.1:c.4475A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021055.3:c.4475A>T - missense variant - [Sequence Ontology: SO:0001583]