ClinVar

NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)

Gene:

TUBA1A:tubulin alpha 1a [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

• Chr12: 49185714 (on Assembly GRCh38)
• Chr12: 49579497 (on Assembly GRCh37)

Preferred name:

NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)

HGVS:

• NC_000012.12:g.49185714C>T
• NG_008966.1:g.8365G>A
• NM_001270399.2:c.652G>A
• NM_001270400.2:c.547G>A
• NM_006009.4:c.652G>AMANE SELECT
• NP_001257328.1:p.Asp218Asn
• NP_001257328.1:p.Asp218Asn
• NP_001257329.1:p.Asp183Asn
• NP_006000.2:p.Asp218Asn
• NC_000012.11:g.49579497C>T
• NM_001270399.1:c.652G>A
• NM_006009.2:c.652G>A
• NM_006009.3:c.652G>A

This HGVS expression did not pass validation

Protein change:

D183N

Links:

dbSNP: rs1057517858

NCBI 1000 Genomes Browser:

rs1057517858

Molecular consequence:

• NM_001270399.2:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270400.2:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006009.4:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

dominant_negative_variant [Sequence Ontology: SO:0002052]