ClinVar

NM_000548.5(TSC2):c.4569+50T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2085076 (on Assembly GRCh38)
• Chr16: 2135077 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4569+50T>A

HGVS:

• NC_000016.10:g.2085076T>A
• NG_005895.1:g.40771T>A
• NM_000548.5:c.4569+50T>AMANE SELECT
• NM_001077183.3:c.4368+50T>A
• NM_001114382.3:c.4500+50T>A
• NM_001318827.2:c.4260+50T>A
• NM_001318829.2:c.4224+50T>A
• NM_001318831.2:c.3837+50T>A
• NM_001318832.2:c.4401+50T>A
• NM_001363528.2:c.4371+50T>A
• NM_001370404.1:c.4437+50T>A
• NM_001370405.1:c.4440+50T>A
• NM_021055.3:c.4440+50T>A
• LRG_487t1:c.4569+50T>A
• LRG_487:g.40771T>A
• NC_000016.9:g.2135077T>A
• NM_000548.3:c.4569+50T>A
• p.(=)

This HGVS expression did not pass validation

Links:

Tuberous sclerosis database (TSC2): TSC2_00925; dbSNP: rs45482792

NCBI 1000 Genomes Browser:

rs45482792

Molecular consequence:

• NM_000548.5:c.4569+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.4368+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.4500+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.4260+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.4224+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.3837+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.4401+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.4371+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.4437+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.4440+50T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.4440+50T>A - intron variant - [Sequence Ontology: SO:0001627]