ClinVar

NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)

Gene:

DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

• Chr14: 49634964 (on Assembly GRCh38)
• Chr14: 50101682 (on Assembly GRCh37)

Preferred name:

NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)

HGVS:

• NC_000014.9:g.49634964C>G
• NG_013070.1:g.5267G>C
• NM_001083908.2:c.186G>C
• NM_018139.3:c.186G>CMANE SELECT
• NP_001077377.1:p.Glu62Asp
• NP_060609.2:p.Glu62Asp
• NP_060609.2:p.Glu62Asp
• NC_000014.8:g.50101682C>G
• NM_018139.2:c.186G>C
• Q9NVR5:p.Glu62Asp

This HGVS expression did not pass validation

Protein change:

E62D

Links:

UniProtKB: Q9NVR5#VAR_057788; dbSNP: rs2985684

NCBI 1000 Genomes Browser:

rs2985684

Molecular consequence:

• NM_001083908.2:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018139.3:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]