RGD:8612010 Rat Genome Database

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Variant: RGD:8612010 -  Homo sapiens

RGD ID: 8612010
RS ID: rs397514706
ClinVar ID: CV65663
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHST14  LOC127829323  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 40,764,233
GRCh38 15 40,472,034
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_017074.1:g.6074G>C
NC_000015.10:g.40472034G>C
NC_000015.9:g.40764233G>C
NP_569735.1:p.Arg274Pro
More... 		11/22/2013 missense|missense variant pathogenic neonatal/infancy <1 / 1 000 000
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 P (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMIERGILAEMKPLPLHPPGREG
TAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQPGMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACS
NWKRVMKVLAGVLDSVDVRLKMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAE
IVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPEPMNEHWMPVYHLCQPCAVHYDFVGSYERLEADANQVLEWVRAPPHVR
FPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFSLFAYPLPNVTKEACQQ*
Variant Samples
Additional References at PubMed
PMID:22581468  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000043688 CLINVAR
dbSNP (RS) rs397514706 CLINVAR
MedGen CN295219 CLINVAR
NCBI Gene CHST14 CLINVAR
OMIM 601776 CLINVAR
  608429 CLINVAR
OMIM Allele 608429.0009 CLINVAR