SEMA3A semaphorin 3A

Gene info

Synonyms

SEMA1, SemD, coll-1, Hsema-I

Previous symbol

SEMAD

External ID

HGNC: 10723
Entrez Gene: 10371
Ensembl: ENSG00000075213
UCSC: uc003uhz.4
OMIM: 603961
UniProtKB: Q14563

Disease info

Disease

None

CHD Phenotype

  • Common origin of the right and left carotid arteries with a hypoplastic right carotid artery
  • Left aortic arch with no evidence of a vascular ring
  • Patent foramen ovale

Extra Cardiac Phenotype

Short stature, skeletal abnormalities

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for a null allele have CHD

MGI ID

107558

Variant info

Clinvar

SEMA3A

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for SEMA3A.

Selected References

None