RGD:156238636 Rat Genome Database

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Variant: RGD:156238636 -  Homo sapiens

RGD ID: 156238636
ClinVar ID: CV2090316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEMA3E  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 83,029,343
GRCh38 7 83,400,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1287t1:c.1366+1G>T
NM_001178129.2:c.1186+1G>T
NM_012431.3:c.1366+1G>T
LRG_1287:g.254137G>T
More... 		10/20/2022 splice donor variant uncertain significance CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation; Hall-Hittner syndrome; Hittner Hirsch Kreh syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SEMA3E
Accession:NM_012431
Location:INTRON

Gene Symbol:SEMA3E
Accession:NM_001178129
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002894830 CLINVAR
MedGen C0265354 CLINVAR
NCBI Gene SEMA3E CLINVAR
OMIM 214800 CLINVAR
  608166 CLINVAR
SNOMED CT 47535005 CLINVAR