ClinVar

NM_177972.3(TUB):c.298C>T (p.Arg100Cys)

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: 8094090 (on Assembly GRCh38)
• Chr11: 8115637 (on Assembly GRCh37)

Preferred name:

NM_177972.3(TUB):c.298C>T (p.Arg100Cys)

HGVS:

• NC_000011.10:g.8094090C>T
• NG_029912.1:g.60458C>T
• NG_030416.2:g.79954G>A
• NM_003320.4:c.463C>T
• NM_003320.5:c.463C>T
• NM_177972.3:c.298C>TMANE SELECT
• NP_003311.2:p.Arg155Cys
• NP_813977.1:p.Arg100Cys
• NC_000011.9:g.8115637C>T
• NR_144485.2:n.1520G>A

This HGVS expression did not pass validation

Protein change:

R100C

Links:

dbSNP: rs751661721

NCBI 1000 Genomes Browser:

rs751661721

Molecular consequence:

• NM_003320.5:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177972.3:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_144485.2:n.1520G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]