ClinVar

NM_003193.5(TBCE):c.1117-9T>C

Gene:

TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.3

Genomic location:

• Chr1: 235438760 (on Assembly GRCh38)
• Chr1: 235602075 (on Assembly GRCh37)

Preferred name:

NM_003193.5(TBCE):c.1117-9T>C

HGVS:

• NC_000001.11:g.235438760T>C
• NG_009230.1:g.76348T>C
• NG_009230.2:g.76335T>C
• NG_033219.3:g.70692A>G
• NM_001079515.3:c.1117-9T>C
• NM_001287801.2:c.1270-9T>C
• NM_001287802.2:c.778-9T>C
• NM_003193.5:c.1117-9T>CMANE SELECT
• NC_000001.10:g.235602075T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001079515.3:c.1117-9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287801.2:c.1270-9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287802.2:c.778-9T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_003193.5:c.1117-9T>C - intron variant - [Sequence Ontology: SO:0001627]