RGD:8566880 Rat Genome Database

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Variant: RGD:8566880 -  Homo sapiens

RGD ID: 8566880
RS ID: rs80338857
ClinVar ID: CV34128
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 71,150,031
GRCh38 11 71,438,985
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
NG_012655.2:g.14447G>A
NC_000011.10:g.71438985C>T
NC_000011.9:g.71150031C>T
NP_001351.2:p.Arg242His
More... 		03/26/2021 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/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_001360
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GHPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*

Gene Symbol:DHCR7
Accession:NM_001163817
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GHPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*

Gene Symbol:DHCR7
Accession:XM_011544777
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GHPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QKRTRRQGVCQRQSWGLTPGRWAPEPTLLSSPWAKHRLTPSPSPPRVCTWCTTPCSCPPRTPWASCCWAWWATTSSGWPT
TRRTCSAARMGAASSGAGSPRSSSAPTHPPMGRGTTASCWCRASGAWPATSTTSAT*
Variant Samples
Additional References at PubMed
PMID:10405455   PMID:10677299   PMID:10995508   PMID:11427181   PMID:12818773   PMID:15464432   PMID:15776424   PMID:15954111   PMID:16044199   PMID:16207203   PMID:20301322   PMID:22975760  
PMID:23293579   PMID:25741868   PMID:26969503   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000020439 CLINVAR
  RCV001529736 CLINVAR
dbSNP (RS) rs80338857 CLINVAR
MedGen C0175694 CLINVAR
  C3661900 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR