RGD:14739142 Rat Genome Database

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Variant: RGD:14739142 -  Homo sapiens

RGD ID: 14739142
RS ID: rs561964206
ClinVar ID: CV643158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST14  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 40,763,662
GRCh38 15 40,471,463
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130468.4:c.250C>A
NP_569735.1:p.Arg84Ser
LRG_600t1:c.250C>A
LRG_600:g.5503C>A
More... 		03/05/2019 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: R to S (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKPLPLHPPGREG
TAWSGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACS
NWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAE
IVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCAVHYDFVGSYERLEADANQVLEWVRAPPHVR
FPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000821220 CLINVAR
  RCV002427059 CLINVAR
dbSNP (RS) rs561964206 CLINVAR
MedGen C1866294 CLINVAR
  CN230736 CLINVAR
NCBI Gene CHST14 CLINVAR
OMIM 601776 CLINVAR
  608429 CLINVAR