RGD:11602192 Rat Genome Database

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Variant: RGD:11602192 -  Homo sapiens

RGD ID: 11602192
RS ID: rs183610891
ClinVar ID: CV315078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 71,156,008
GRCh38 11 71,444,962
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.-6-4G>A
LRG_340:g.8470G>A
NG_012655.2:g.8470G>A
NC_000011.10:g.71444962C>T
More... 		07/06/2021 intron variant likely benign|uncertain significance infancy 1-9 / 100 000 7-Dehydrocholesterol reductase deficiency; LETHAL ACRODYSGENITAL SYNDROME; 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:5UTRS;INTRON

Gene Symbol:DHCR7
Accession:NM_001163817
Location:5UTRS;INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000288649 CLINVAR
  RCV003957584 CLINVAR
dbSNP (RS) rs183610891 CLINVAR
MedGen C0175694 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR