ClinVar

NM_001329.4(CTBP2):c.58+11426C>T

Gene:

CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 125027571 (on Assembly GRCh38)
• Chr10: 126716140 (on Assembly GRCh37)

Preferred name:

NM_001329.4(CTBP2):c.58+11426C>T

HGVS:

• NC_000010.11:g.125027571G>A
• NM_001083914.3:c.58+11426C>T
• NM_001290214.3:c.58+11426C>T
• NM_001290215.3:c.58+11426C>T
• NM_001321012.2:c.58+11426C>T
• NM_001321013.2:c.58+11426C>T
• NM_001321014.2:c.58+11426C>T
• NM_001329.4:c.58+11426C>TMANE SELECT
• NM_022802.3:c.189C>T
• NP_073713.2:p.Pro63=
• NC_000010.10:g.126716140G>A
• NM_022802.2:c.189C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001083914.3:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290214.3:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290215.3:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321012.2:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321013.2:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321014.2:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001329.4:c.58+11426C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022802.3:c.189C>T - synonymous variant - [Sequence Ontology: SO:0001819]