ClinVar

NM_000548.5(TSC2):c.1839+9G>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2070587 (on Assembly GRCh38)
• Chr16: 2120588 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.1839+9G>T

HGVS:

• NC_000016.10:g.2070587G>T
• NG_005895.1:g.26282G>T
• NM_000548.5:c.1839+9G>TMANE SELECT
• NM_001077183.3:c.1839+9G>T
• NM_001114382.3:c.1839+9G>T
• NM_001318827.2:c.1728+9G>T
• NM_001318829.2:c.1692+9G>T
• NM_001318831.2:c.1239+9G>T
• NM_001318832.2:c.1872+9G>T
• NM_001363528.2:c.1839+9G>T
• NM_001370404.1:c.1839+9G>T
• NM_001370405.1:c.1839+9G>T
• NM_021055.3:c.1839+9G>T
• LRG_487:g.26282G>T
• NC_000016.9:g.2120588G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs751834233

NCBI 1000 Genomes Browser:

rs751834233

Molecular consequence:

• NM_000548.5:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.1728+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.1692+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.1239+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.1872+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.1839+9G>T - intron variant - [Sequence Ontology: SO:0001627]