ClinVar

NM_001069.3(TUBB2A):c.363G>A (p.Arg121=)

Gene:

TUBB2A:tubulin beta 2A class IIa [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.2

Genomic location:

• Chr6: 3154838 (on Assembly GRCh38)
• Chr6: 3155072 (on Assembly GRCh37)

Preferred name:

NM_001069.3(TUBB2A):c.363G>A (p.Arg121=)

HGVS:

• NC_000006.12:g.3154838C>T
• NG_042223.1:g.7712G>A
• NM_001069.3:c.363G>AMANE SELECT
• NM_001310315.2:c.108G>A
• NP_001060.1:p.Arg121=
• NP_001297244.1:p.Arg36=
• NC_000006.11:g.3155072C>T
• NM_001069.2:c.363G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143644817

NCBI 1000 Genomes Browser:

rs143644817

Molecular consequence:

• NM_001069.3:c.363G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001310315.2:c.108G>A - synonymous variant - [Sequence Ontology: SO:0001819]