RGD:12839254 Rat Genome Database

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Variant: RGD:12839254 -  Homo sapiens

RGD ID: 12839254
RS ID: rs369382960
ClinVar ID: CV371677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 71,146,838
GRCh38 11 71,435,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001360.2:c.1011C>T
LRG_340t1:c.1011C>T
LRG_340:g.17640C>T
NG_012655.2:g.17640C>T
More... 		07/18/2018 synonymous variant likely benign|uncertain significance 7-Dehydrocholesterol reductase deficiency; AllHighlyPenetrant; 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:XM_011544777
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHA
RLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFA
NAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTL
QKRTRRQGVCQRQSWGLTPGRWAPEPTLLSSPWAKHRLTPSPSPPRVCTWCTTPCSCPPRTLWASCCWAWWATTSSGWPT
TRRTCSAARMGAASSGAGSPRSSSAPTHPPMGRGTTASCWCRASGAWPATSTTSAT*

Gene Symbol:DHCR7
Accession:NM_001163817
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 337
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: A to A (synonymous)
Amino Acid Position: 337
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 RCV000428469 CLINVAR
  RCV000734339 CLINVAR
  RCV001274174 CLINVAR
dbSNP (RS) rs369382960 CLINVAR
MedGen C0175694 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR