ClinVar

NM_000548.5(TSC2):c.5260-42C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2088404 (on Assembly GRCh38)
• Chr16: 2138405 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.5260-42C>T

HGVS:

• NC_000016.10:g.2088404C>T
• NG_005895.1:g.44099C>T
• NG_008617.1:g.54817G>A
• NM_000548.5:c.5260-42C>TMANE SELECT
• NM_001077183.3:c.5059-42C>T
• NM_001114382.3:c.5191-42C>T
• NM_001318827.2:c.4951-42C>T
• NM_001318829.2:c.4915-42C>T
• NM_001318831.2:c.4528-42C>T
• NM_001318832.2:c.5092-42C>T
• NM_001363528.2:c.5062-42C>T
• NM_001370404.1:c.5128-42C>T
• NM_001370405.1:c.5119-42C>T
• NM_021055.3:c.5131-42C>T
• LRG_487t1:c.5260-42C>T
• LRG_487:g.44099C>T
• NC_000016.9:g.2138405C>T
• NM_000548.3:c.5260-42C>T
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC2): TSC2_00375; dbSNP: rs45517417

NCBI 1000 Genomes Browser:

rs45517417

Molecular consequence:

• NM_000548.5:c.5260-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.5059-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.5191-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.4951-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.4915-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.4528-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.5092-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.5062-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.5128-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.5119-42C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.5131-42C>T - intron variant - [Sequence Ontology: SO:0001627]