RGD:150439174 Rat Genome Database

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Variant: RGD:150439174 -  Homo sapiens

RGD ID: 150439174
RS ID: rs2709941
ClinVar ID: CV1221274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SEMA3E  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 83,036,602
GRCh38 7 83,407,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001178129.2:c.491-47A>T
NM_012431.3:c.671-47A>T
LRG_1287:g.246878A>T
NG_021242.2:g.246878A>T
More... 		08/30/2018 intron variant benign 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; none provided
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  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001609968 CLINVAR
  RCV001807445 CLINVAR
dbSNP (RS) rs2709941 CLINVAR
MedGen C0265354 CLINVAR
  C3661900 CLINVAR
NCBI Gene SEMA3E CLINVAR
OMIM 214800 CLINVAR
  608166 CLINVAR
SNOMED CT 47535005 CLINVAR