ClinVar

NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30723017 (on Assembly GRCh38)
• Chr6: 30690794 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)

HGVS:

• NC_000006.12:g.30723017A>C
• NG_034142.1:g.7817A>C
• NM_001293212.2:c.326A>C
• NM_001293213.2:c.266A>C
• NM_001293214.2:c.134A>C
• NM_001293215.2:c.50A>C
• NM_001293216.2:c.50A>C
• NM_178014.4:c.266A>CMANE SELECT
• NP_001280141.1:p.Asn109Thr
• NP_001280142.1:p.Asn89Thr
• NP_001280143.1:p.Asn45Thr
• NP_001280144.1:p.Asn17Thr
• NP_001280145.1:p.Asn17Thr
• NP_821133.1:p.Asn89Thr
• NC_000006.11:g.30690794A>C
• NR_120608.2:n.421A>C

This HGVS expression did not pass validation

Protein change:

N109T

Links:

dbSNP: rs1179402804

NCBI 1000 Genomes Browser:

rs1179402804

Molecular consequence:

• NM_001293212.2:c.326A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293213.2:c.266A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.50A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.50A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.266A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_120608.2:n.421A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]