ClinVar

NM_178014.4(TUBB):c.845G>A (p.Arg282Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30723907 (on Assembly GRCh38)
• Chr6: 30691684 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.845G>A (p.Arg282Gln)

HGVS:

• NC_000006.12:g.30723907G>A
• NG_034142.1:g.8707G>A
• NM_001293212.2:c.905G>A
• NM_001293213.2:c.370-131G>A
• NM_001293214.2:c.713G>A
• NM_001293215.2:c.629G>A
• NM_001293216.2:c.629G>A
• NM_178014.4:c.845G>AMANE SELECT
• NP_001280141.1:p.Arg302Gln
• NP_001280143.1:p.Arg238Gln
• NP_001280144.1:p.Arg210Gln
• NP_001280145.1:p.Arg210Gln
• NP_821133.1:p.Arg282Gln
• NC_000006.11:g.30691684G>A

This HGVS expression did not pass validation

Protein change:

R210Q

Links:

dbSNP: rs1554202407

NCBI 1000 Genomes Browser:

rs1554202407

Molecular consequence:

• NM_001293213.2:c.370-131G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293212.2:c.905G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.713G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.845G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1