ClinVar

NM_000548.5(TSC2):c.5260-49C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2088397 (on Assembly GRCh38)
• Chr16: 2138398 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.5260-49C>T

HGVS:

• NC_000016.10:g.2088397C>T
• NG_005895.1:g.44092C>T
• NG_008617.1:g.54824G>A
• NM_000548.4:c.5260-49C>T
• NM_000548.5:c.5260-49C>TMANE SELECT
• NM_001077183.3:c.5059-49C>T
• NM_001114382.3:c.5191-49C>T
• NM_001318827.2:c.4951-49C>T
• NM_001318829.2:c.4915-49C>T
• NM_001318831.2:c.4528-49C>T
• NM_001318832.2:c.5092-49C>T
• NM_001363528.2:c.5062-49C>T
• NM_001370404.1:c.5128-49C>T
• NM_001370405.1:c.5119-49C>T
• NM_021055.3:c.5131-49C>T
• LRG_487t1:c.5260-49C>T
• LRG_487:g.44092C>T
• NC_000016.9:g.2138398C>T
• NM_000548.3:c.5260-49C>T
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC2): TSC2_00150; dbSNP: rs13332221

NCBI 1000 Genomes Browser:

rs13332221

Molecular consequence:

• NM_000548.5:c.5260-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.5059-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.5191-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.4951-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.4915-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.4528-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.5092-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.5062-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.5128-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.5119-49C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.5131-49C>T - intron variant - [Sequence Ontology: SO:0001627]