ClinVar

NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)

Gene:

DRC1:dynein regulatory complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 26421396 (on Assembly GRCh38)
• Chr2: 26644264 (on Assembly GRCh37)

Preferred name:

NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)

HGVS:

• NC_000002.12:g.26421396C>T
• NG_042824.1:g.24485C>T
• NM_145038.5:c.352C>TMANE SELECT
• NP_659475.2:p.Gln118Ter
• NC_000002.11:g.26644264C>T
• NM_145038.2:c.352C>T
• NM_145038.3:c.352C>T
• NM_145038.4:c.352C>T
• NP_659475.2:p.Lys686Ter
• NP_659475.2:p.Lys686Ter
• p.Gln118X

This HGVS expression did not pass validation

Protein change:

Q118*; GLN118TER

Links:

OMIM: 615288.0002; dbSNP: rs142371860

NCBI 1000 Genomes Browser:

rs142371860

Molecular consequence:

• NM_145038.5:c.352C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

RNA degradation by nonsense-mediated decay [Variation Ontology: 0347]