ClinVar

NM_000548.5(TSC2):c.4570-20C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2085210 (on Assembly GRCh38)
• Chr16: 2135211 (on Assembly GRCh37)

Preferred name:

NM_000548.5(TSC2):c.4570-20C>T

HGVS:

• NC_000016.10:g.2085210C>T
• NG_005895.1:g.40905C>T
• NM_000548.5:c.4570-20C>TMANE SELECT
• NM_001077183.3:c.4369-20C>T
• NM_001114382.3:c.4501-20C>T
• NM_001318827.2:c.4261-20C>T
• NM_001318829.2:c.4225-20C>T
• NM_001318831.2:c.3838-20C>T
• NM_001318832.2:c.4402-20C>T
• NM_001363528.2:c.4372-20C>T
• NM_001370404.1:c.4438-20C>T
• NM_001370405.1:c.4441-20C>T
• NM_021055.3:c.4441-20C>T
• LRG_487:g.40905C>T
• NC_000016.9:g.2135211C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs761324622

NCBI 1000 Genomes Browser:

rs761324622

Molecular consequence:

• NM_000548.5:c.4570-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077183.3:c.4369-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001114382.3:c.4501-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318827.2:c.4261-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318829.2:c.4225-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318831.2:c.3838-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318832.2:c.4402-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363528.2:c.4372-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370404.1:c.4438-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001370405.1:c.4441-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021055.3:c.4441-20C>T - intron variant - [Sequence Ontology: SO:0001627]