ClinVar

NM_000548.5(TSC2):c.4086C>T (p.Val1362=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2084308 (on Assembly GRCh38)
• Chr16: 2134309 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4086C>T (p.Val1362=)

HGVS:

• NC_000016.10:g.2084308C>T
• NG_005895.1:g.40003C>T
• NM_000548.5:c.4086C>TMANE SELECT
• NM_001077183.3:c.3885C>T
• NM_001114382.3:c.4017C>T
• NM_001318827.2:c.3777C>T
• NM_001318829.2:c.3741C>T
• NM_001318831.2:c.3354C>T
• NM_001318832.2:c.3918C>T
• NM_001363528.2:c.3888C>T
• NM_001370404.1:c.3954C>T
• NM_001370405.1:c.3957C>T
• NM_021055.3:c.3957C>T
• NP_000539.2:p.Val1362=
• NP_001070651.1:p.Val1295=
• NP_001107854.1:p.Val1339=
• NP_001305756.1:p.Val1259=
• NP_001305758.1:p.Val1247=
• NP_001305760.1:p.Val1118=
• NP_001305761.1:p.Val1306=
• NP_001350457.1:p.Val1296=
• NP_001357333.1:p.Val1318=
• NP_001357334.1:p.Val1319=
• NP_066399.2:p.Val1319=
• LRG_487t1:c.4086C>T
• LRG_487:g.40003C>T
• NC_000016.9:g.2134309C>T
• NM_000548.3:c.4086C>T
• NM_000548.4:c.4086C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs763847509

NCBI 1000 Genomes Browser:

rs763847509

Molecular consequence:

• NM_000548.5:c.4086C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077183.3:c.3885C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001114382.3:c.4017C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318827.2:c.3777C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318829.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318831.2:c.3354C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318832.2:c.3918C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363528.2:c.3888C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370404.1:c.3954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370405.1:c.3957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021055.3:c.3957C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

6