RGD:13837644 Rat Genome Database

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Variant: RGD:13837644 -  Homo sapiens

RGD ID: 13837644
RS ID: rs1318919210
ClinVar ID: CV588935
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 71,149,918
GRCh38 11 71,438,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_340:g.14560G>A
NG_012655.2:g.14560G>A
NC_000011.10:g.71438872C>T
NC_000011.9:g.71149918C>T
More... 		10/27/2021 intron variant likely benign|uncertain significance 7-Dehydrocholesterol reductase deficiency; LETHAL ACRODYSGENITAL SYNDROME; none provided; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RSH syndrome; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; SLO syndrome type 1; Smith-Lemli-Opitz syndrome type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHCR7
Accession:NM_001360
Location:INTRON

Gene Symbol:DHCR7
Accession:XM_011544777
Location:INTRON

Gene Symbol:DHCR7
Accession:NM_001163817
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000734126 CLINVAR
  RCV002067162 CLINVAR
  RCV003892667 CLINVAR
dbSNP (RS) rs1318919210 CLINVAR
MedGen C0175694 CLINVAR
  C3661900 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR