RGD:13810667 Rat Genome Database

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Variant: RGD:13810667 -  Homo sapiens

RGD ID: 13810667
RS ID: rs763074027
ClinVar ID: CV568758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST14  LOC127829323  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 40,764,281
GRCh38 15 40,472,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_600t1:c.869C>T
LRG_600:g.6122C>T
NG_017074.1:g.6122C>T
NC_000015.10:g.40472082C>T
More... 		02/01/2018 missense variant uncertain significance Adducted thumb, clubfoot, progressive joint and skin laxity syndrome; Adducted Thumb-Clubfoot Syndrome; ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS; DUNDAR SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CHST14
Accession:NM_130468
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKPLPLHPPGREG
TAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACS
NWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAE
IVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCVVHYDFVGSYERLEADANQVLEWVRAPPHVR
FPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000702600 CLINVAR
  RCV002369938 CLINVAR
dbSNP (RS) rs763074027 CLINVAR
MedGen C1866294 CLINVAR
  CN230736 CLINVAR
NCBI Gene CHST14 CLINVAR
OMIM 601776 CLINVAR
  608429 CLINVAR