ClinVar

NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30723709 (on Assembly GRCh38)
• Chr6: 30691486 (on Assembly GRCh37)

Preferred name:

NM_178014.4(TUBB):c.647A>G (p.Lys216Arg)

HGVS:

• NC_000006.12:g.30723709A>G
• NG_034142.1:g.8509A>G
• NM_001293212.2:c.707A>G
• NM_001293213.2:c.369+278A>G
• NM_001293214.2:c.515A>G
• NM_001293215.2:c.431A>G
• NM_001293216.2:c.431A>G
• NM_178014.4:c.647A>GMANE SELECT
• NP_001280141.1:p.Lys236Arg
• NP_001280143.1:p.Lys172Arg
• NP_001280144.1:p.Lys144Arg
• NP_001280145.1:p.Lys144Arg
• NP_821133.1:p.Lys216Arg
• NC_000006.11:g.30691486A>G
• NM_001293212.1:c.707A>G

This HGVS expression did not pass validation

Protein change:

K144R

Links:

dbSNP: rs1059145

NCBI 1000 Genomes Browser:

rs1059145

Molecular consequence:

• NM_001293213.2:c.369+278A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001293212.2:c.707A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293214.2:c.515A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293215.2:c.431A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001293216.2:c.431A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_178014.4:c.647A>G - missense variant - [Sequence Ontology: SO:0001583]