ClinVar

NM_005993.5(TBCD):c.1318+17097C>T

Genes:

TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 82832031 (on Assembly GRCh38)
• Chr17: 80789907 (on Assembly GRCh37)

Preferred name:

NM_005993.5(TBCD):c.1318+17097C>T

HGVS:

• NC_000017.11:g.82832031C>T
• NG_011604.1:g.13025G>A
• NG_011721.2:g.84968C>T
• NM_001411101.1:c.1267+17097C>T
• NM_001411102.1:c.1318+17097C>T
• NM_005993.5:c.1318+17097C>TMANE SELECT
• NM_024702.3:c.424G>AMANE SELECT
• NP_078978.2:p.Ala142Thr
• NC_000017.10:g.80789907C>T
• NG_011721.1:g.84968C>T

This HGVS expression did not pass validation

Protein change:

A142T

Molecular consequence:

• NM_001411101.1:c.1267+17097C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001411102.1:c.1318+17097C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005993.5:c.1318+17097C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_024702.3:c.424G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3