ClinVar

NM_177972.3(TUB):c.366C>T (p.Ala122=)

Genes:

RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 8094158 (on Assembly GRCh38)
• Chr11: 8115705 (on Assembly GRCh37)

Preferred name:

NM_177972.3(TUB):c.366C>T (p.Ala122=)

HGVS:

• NC_000011.10:g.8094158C>T
• NG_029912.2:g.80101C>T
• NG_030416.2:g.79886G>A
• NM_003320.4:c.531C>T
• NM_003320.5:c.531C>T
• NM_177972.3:c.366C>TMANE SELECT
• NP_003311.2:p.Ala177=
• NP_813977.1:p.Ala122=
• NC_000011.9:g.8115705C>T
• NG_029912.1:g.60526C>T
• NR_144485.2:n.1452G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_144485.2:n.1452G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_003320.5:c.531C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_177972.3:c.366C>T - synonymous variant - [Sequence Ontology: SO:0001819]