ClinVar

NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30724323 (on Assembly GRCh38)
• Chr6: 30692100 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)

HGVS:

• NC_000006.12:g.30724323G>A
• NG_034142.1:g.9123G>A
• NM_001293212.2:c.1321G>A
• NM_001293213.2:c.655G>A
• NM_001293214.2:c.1129G>A
• NM_001293215.2:c.1045G>A
• NM_001293216.2:c.1045G>A
• NM_178014.4:c.1261G>AMANE SELECT
• NP_001280141.1:p.Glu441Lys
• NP_001280142.1:p.Glu219Lys
• NP_001280143.1:p.Glu377Lys
• NP_001280144.1:p.Glu349Lys
• NP_001280145.1:p.Glu349Lys
• NP_821133.1:p.Glu421Lys
• NC_000006.11:g.30692100G>A
• NM_178014.3:c.1261G>A
• NR_120608.2:n.817G>A

This HGVS expression did not pass validation

Protein change:

E219K

Links:

Molecular consequence:

• NM_001293212.2:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293213.2:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.1129G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.1045G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120608.2:n.817G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1