ClinVar

NM_001387274.1(DCDC1):c.4736C>T (p.Thr1579Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p14.1

Genomic location:

• Chr11: 30899570 (on Assembly GRCh38)
• Chr11: 30921117 (on Assembly GRCh37)

Preferred name:

NM_001387274.1(DCDC1):c.4736C>T (p.Thr1579Ile)

HGVS:

• NC_000011.10:g.30899570G>A
• NM_001367979.1:c.4727C>T
• NM_001387274.1:c.4736C>TMANE SELECT
• NM_001387275.1:c.1481C>T
• NM_020869.4:c.2048C>T
• NP_001354908.1:p.Thr1576Ile
• NP_001374203.1:p.Thr1579Ile
• NP_001374204.1:p.Thr494Ile
• NP_065920.2:p.Thr683Ile
• NC_000011.9:g.30921117G>A
• NM_020869.3:c.2048C>T

This HGVS expression did not pass validation

Protein change:

T1576I

Molecular consequence:

• NM_001367979.1:c.4727C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387274.1:c.4736C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387275.1:c.1481C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020869.4:c.2048C>T - missense variant - [Sequence Ontology: SO:0001583]