ClinVar

NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)

Gene:

TOGARAM1:TOG array regulator of axonemal microtubules 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.2

Genomic location:

• Chr14: 45044648 (on Assembly GRCh38)
• Chr14: 45513851 (on Assembly GRCh37)

Preferred name:

NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)

Other names:

NR_131765.2:n.3995G>A

HGVS:

• NC_000014.9:g.45044648G>A
• NM_001308120.2:c.3932G>AMANE SELECT
• NM_015091.4:c.3932G>A
• NP_001295049.1:p.Arg1311His
• NP_055906.2:p.Arg1311His
• NC_000014.8:g.45513851G>A
• NR_131765.2:n.3995G>A

This HGVS expression did not pass validation

Protein change:

R1311H

Molecular consequence:

• NM_001308120.2:c.3932G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015091.4:c.3932G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_131765.2:n.3995G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1