ClinVar

NM_145045.5(ODAD3):c.1127G>T (p.Arg376Leu)

Gene:

ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11422851 (on Assembly GRCh38)
• Chr19: 11533519 (on Assembly GRCh37)

Preferred name:

NM_145045.5(ODAD3):c.1127G>T (p.Arg376Leu)

HGVS:

• NC_000019.10:g.11422851C>A
• NG_041777.1:g.17932G>T
• NM_001302453.1:c.965G>T
• NM_001302454.2:c.947G>T
• NM_145045.5:c.1127G>TMANE SELECT
• NP_001289382.1:p.Arg322Leu
• NP_001289383.1:p.Arg316Leu
• NP_659482.3:p.Arg376Leu
• NC_000019.9:g.11533519C>A
• NM_145045.4:c.1127G>T

This HGVS expression did not pass validation

Protein change:

R316L

Molecular consequence:

• NM_001302453.1:c.965G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001302454.2:c.947G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145045.5:c.1127G>T - missense variant - [Sequence Ontology: SO:0001583]