RGD:11605662 Rat Genome Database

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Variant: RGD:11605662 -  Homo sapiens

RGD ID: 11605662
RS ID: rs12573951
ClinVar ID: CV315079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 71,158,672
GRCh38 11 71,447,626
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_340t1:c.-23T>C
LRG_340:g.5806T>C
NG_012655.2:g.5806T>C
NC_000011.10:g.71447626A>G
More... 		01/13/2018 5 prime utr variant benign|likely benign infancy 1-9 / 100 000 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_001163817
Location:5UTRS;EXON

Gene Symbol:DHCR7
Accession:XM_011544777
Location:5UTRS;EXON

Gene Symbol:DHCR7
Accession:NM_001360
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000322582 CLINVAR
  RCV001597061 CLINVAR
dbSNP (RS) rs12573951 CLINVAR
MedGen C0175694 CLINVAR
  C3661900 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR