ClinVar

NM_178014.4(TUBB):c.1309G>A (p.Gly437Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30724371 (on Assembly GRCh38)
• Chr6: 30692148 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.1309G>A (p.Gly437Ser)

HGVS:

• NC_000006.12:g.30724371G>A
• NG_034142.1:g.9171G>A
• NM_001293212.2:c.1369G>A
• NM_001293213.2:c.703G>A
• NM_001293214.2:c.1177G>A
• NM_001293215.2:c.1093G>A
• NM_001293216.2:c.1093G>A
• NM_178014.4:c.1309G>AMANE SELECT
• NP_001280141.1:p.Gly457Ser
• NP_001280142.1:p.Gly235Ser
• NP_001280143.1:p.Gly393Ser
• NP_001280144.1:p.Gly365Ser
• NP_001280145.1:p.Gly365Ser
• NP_821133.1:p.Gly437Ser
• NC_000006.11:g.30692148G>A
• NM_178014.3:c.1309G>A
• NR_120608.2:n.865G>A

This HGVS expression did not pass validation

Protein change:

G235S

Links:

dbSNP: rs760014512

NCBI 1000 Genomes Browser:

rs760014512

Molecular consequence:

• NM_001293212.2:c.1369G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293213.2:c.703G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.1177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.1093G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.1309G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120608.2:n.865G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]