ClinVar

NM_000548.5(TSC2):c.2546-5C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2075794 (on Assembly GRCh38)
• Chr16: 2125795 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.2546-5C>T

HGVS:

• NC_000016.10:g.2075794C>T
• NG_005895.1:g.31489C>T
• NM_000548.5:c.2546-5C>TMANE SELECT
• NM_001077183.3:c.2546-5C>T
• NM_001114382.3:c.2546-5C>T
• NM_001318827.2:c.2435-5C>T
• NM_001318829.2:c.2399-5C>T
• NM_001318831.2:c.1946-5C>T
• NM_001318832.2:c.2579-5C>T
• NM_001363528.2:c.2546-5C>T
• NM_001370404.1:c.2546-5C>T
• NM_001370405.1:c.2546-5C>T
• NM_021055.3:c.2546-5C>T
• LRG_487t1:c.2546-5C>T
• LRG_487:g.31489C>T
• NC_000016.9:g.2125795C>T
• NM_000548.3:c.2546-5C>T
• NM_000548.4:c.2546-5C>T
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC2): TSC2_00470; dbSNP: rs45517247

NCBI 1000 Genomes Browser:

rs45517247

Molecular consequence:

• NM_000548.5:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.2435-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.2399-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.1946-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.2579-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.2546-5C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

3