ClinVar

NM_178014.4(TUBB):c.718C>A (p.Leu240Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30723780 (on Assembly GRCh38)
• Chr6: 30691557 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.718C>A (p.Leu240Ile)

HGVS:

• NC_000006.12:g.30723780C>A
• NG_034142.1:g.8580C>A
• NM_001293212.2:c.778C>A
• NM_001293213.2:c.370-258C>A
• NM_001293214.2:c.586C>A
• NM_001293215.2:c.502C>A
• NM_001293216.2:c.502C>A
• NM_178014.4:c.718C>AMANE SELECT
• NP_001280141.1:p.Leu260Ile
• NP_001280143.1:p.Leu196Ile
• NP_001280144.1:p.Leu168Ile
• NP_001280145.1:p.Leu168Ile
• NP_821133.1:p.Leu240Ile
• NC_000006.11:g.30691557C>A
• NM_178014.2:c.718C>A

This HGVS expression did not pass validation

Protein change:

L168I

Links:

dbSNP: rs1250107611

NCBI 1000 Genomes Browser:

rs1250107611

Molecular consequence:

• NM_001293213.2:c.370-258C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293212.2:c.778C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.586C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.502C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.502C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.718C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1