RGD:151875050 Rat Genome Database

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Variant: RGD:151875050 -  Homo sapiens

RGD ID: 151875050
RS ID: rs371994521
ClinVar ID: CV1396945
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEMA3E  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 83,032,102
GRCh38 7 83,402,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1287t1:c.999-10T>C
NM_001178129.2:c.819-10T>C
NM_012431.3:c.999-10T>C
LRG_1287:g.251378T>C
More... 		08/31/2022 intron variant likely benign|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; Hypogonadotropic hypogonadism 7 with or without anosmia; HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001940288 CLINVAR
  RCV002503607 CLINVAR
  RCV003892184 CLINVAR
dbSNP (RS) rs371994521 CLINVAR
MedGen C0265354 CLINVAR
NCBI Gene SEMA3E CLINVAR
OMIM 146110 CLINVAR
  214800 CLINVAR
  608166 CLINVAR
SNOMED CT 47535005 CLINVAR