ClinVar

NM_178014.4(TUBB):c.50G>T (p.Gly17Val)

Gene:

TUBB:tubulin beta class I [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30720556 (on Assembly GRCh38)
• Chr6: 30688333 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.50G>T (p.Gly17Val)

HGVS:

• NC_000006.12:g.30720556G>T
• NG_034142.1:g.5356G>T
• NG_107699.1:g.679G>T
• NM_001293213.2:c.50G>T
• NM_001293214.2:c.34+16G>T
• NM_178014.4:c.50G>TMANE SELECT
• NP_001280142.1:p.Gly17Val
• NP_821133.1:p.Gly17Val
• NC_000006.11:g.30688333G>T
• NM_178014.3:c.50G>T
• NR_120608.2:n.205G>T

This HGVS expression did not pass validation

Protein change:

G17V

Molecular consequence:

• NM_001293214.2:c.34+16G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293213.2:c.50G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.50G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_120608.2:n.205G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]