RGD:15170903 Rat Genome Database

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Variant: RGD:15170903 -  Homo sapiens

RGD ID: 15170903
RS ID: rs951313798
ClinVar ID: CV738262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 71,146,496
GRCh38 11 71,435,450
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001163817.2:c.1353C>T
NM_001360.3:c.1353C>T
NG_012655.2:g.17982C>T
NC_000011.10:g.71435450G>A
More... 		11/02/2018 synonymous variant likely benign 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:XM_011544777
Location:3UTRS;EXON

Gene Symbol:DHCR7
Accession:NM_001163817
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*

Gene Symbol:DHCR7
Accession:NM_001360
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000905357 CLINVAR
dbSNP (RS) rs951313798 CLINVAR
MedGen C0175694 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR