ClinVar

NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30724263 (on Assembly GRCh38)
• Chr6: 30692040 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)

HGVS:

• NC_000006.12:g.30724263G>A
• NG_034142.1:g.9063G>A
• NM_001293212.2:c.1261G>A
• NM_001293213.2:c.595G>A
• NM_001293214.2:c.1069G>A
• NM_001293215.2:c.985G>A
• NM_001293216.2:c.985G>A
• NM_178014.4:c.1201G>AMANE SELECT
• NP_001280141.1:p.Glu421Lys
• NP_001280142.1:p.Glu199Lys
• NP_001280143.1:p.Glu357Lys
• NP_001280144.1:p.Glu329Lys
• NP_001280145.1:p.Glu329Lys
• NP_821133.1:p.Glu401Lys
• NC_000006.11:g.30692040G>A
• NM_178014.2:c.1201G>A
• NR_120608.2:n.757G>A
• P07437:p.Glu401Lys

This HGVS expression did not pass validation

Protein change:

E199K; GLU401LYS

Links:

UniProtKB: P07437#VAR_071765; OMIM: 191130.0003; dbSNP: rs587777357

NCBI 1000 Genomes Browser:

rs587777357

Molecular consequence:

• NM_001293212.2:c.1261G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293213.2:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.1069G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120608.2:n.757G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1