ClinVar

NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)

Gene:

ODAD2:outer dynein arm docking complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.1

Genomic location:

• Chr10: 27935158 (on Assembly GRCh38)
• Chr10: 28224087 (on Assembly GRCh37)

Preferred name:

NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)

HGVS:

• NC_000010.11:g.27935158A>T
• NG_042820.1:g.68893T>A
• NM_001290020.2:c.2347T>A
• NM_001290021.2:c.922T>A
• NM_001312689.2:c.1423T>A
• NM_018076.2:c.2347T>A
• NM_018076.5:c.2347T>AMANE SELECT
• NP_001276949.1:p.Cys783Ser
• NP_001276950.1:p.Cys308Ser
• NP_001299618.1:p.Cys475Ser
• NP_060546.2:p.Cys783Ser
• NC_000010.10:g.28224087A>T
• NM_018076.3:c.2347T>A

This HGVS expression did not pass validation

Protein change:

C308S

Links:

dbSNP: rs767169905

NCBI 1000 Genomes Browser:

rs767169905

Molecular consequence:

• NM_001290020.2:c.2347T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290021.2:c.922T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001312689.2:c.1423T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018076.5:c.2347T>A - missense variant - [Sequence Ontology: SO:0001583]