ClinVar

NM_177972.3(TUB):c.728C>T (p.Pro243Leu)

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: 8097268 (on Assembly GRCh38)
• Chr11: 8118815 (on Assembly GRCh37)

Preferred name:

NM_177972.3(TUB):c.728C>T (p.Pro243Leu)

HGVS:

• NC_000011.10:g.8097268C>T
• NG_029912.1:g.63636C>T
• NG_030416.2:g.76776G>A
• NM_003320.4:c.893C>T
• NM_003320.5:c.893C>T
• NM_177972.3:c.728C>TMANE SELECT
• NP_003311.2:p.Pro298Leu
• NP_813977.1:p.Pro243Leu
• NC_000011.9:g.8118815C>T
• NM_177972.2:c.728C>T

This HGVS expression did not pass validation

Protein change:

P243L

Links:

dbSNP: rs1944038804

NCBI 1000 Genomes Browser:

rs1944038804

Molecular consequence:

• NM_003320.5:c.893C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177972.3:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1