ClinVar

NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)

Gene:

DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 103220720 (on Assembly GRCh38)
• Chr11: 103091449 (on Assembly GRCh37)

Preferred name:

NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)

HGVS:

• NC_000011.10:g.103220720A>G
• NG_016423.2:g.116290A>G
• NM_001080463.2:c.9044A>G
• NM_001377.3:c.9044A>GMANE SELECT
• NP_001073932.1:p.Asp3015Gly
• NP_001368.2:p.Asp3015Gly
• NC_000011.9:g.103091449A>G
• NG_016423.1:g.116290A>G
• NM_001080463.1:c.9044A>G
• NM_001377.2:c.9044A>G
• NM_001377.3:c.9044A>G
• Q8NCM8:p.Asp3015Gly

This HGVS expression did not pass validation

Protein change:

D3015G; ASP3015GLY

Links:

UniProtKB: Q8NCM8#VAR_063250; OMIM: 603297.0004; dbSNP: rs137853027

NCBI 1000 Genomes Browser:

rs137853027

Molecular consequence:

• NM_001080463.2:c.9044A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377.3:c.9044A>G - missense variant - [Sequence Ontology: SO:0001583]