ClinVar

NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)

Gene:

DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.1

Genomic location:

• Chr11: 30925373 (on Assembly GRCh38)
• Chr11: 30946920 (on Assembly GRCh37)

Preferred name:

NM_001387274.1(DCDC1):c.2933G>A (p.Arg978Gln)

HGVS:

• NC_000011.10:g.30925373C>T
• NM_001367979.1:c.2933G>A
• NM_001387274.1:c.2933G>AMANE SELECT
• NM_001387275.1:c.-314G>A
• NM_020869.4:c.254G>A
• NP_001354908.1:p.Arg978Gln
• NP_001374203.1:p.Arg978Gln
• NP_065920.2:p.Arg85Gln
• NC_000011.9:g.30946920C>T
• NM_020869.3:c.254G>A

This HGVS expression did not pass validation

Protein change:

R85Q

Molecular consequence:

• NM_001387275.1:c.-314G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001367979.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387274.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020869.4:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]