RGD:11614433 Rat Genome Database

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Variant: RGD:11614433 -  Homo sapiens

RGD ID: 11614433
RS ID: rs138190746
ClinVar ID: CV342720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPOR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 11,488,789
GRCh38 19 11,378,113
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021395.1:g.11230T>C
NC_000019.10:g.11378113A>G
NC_000019.9:g.11488789A>G
NP_000112.1:p.Thr466=
More... 		01/12/2018 non-coding transcript variant|synonymous variant benign|likely benign Erythrocytosis autosomal dominant benign; ERYTHROCYTOSIS, SOMATIC; Familial erythrocytosis, 1; none provided; Polycythemia, primary familial and congenital; Primary Familial Congenital Polycythemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPOR
Accession:NM_000121
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 466
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHLGASLWPQVGSLCLLLAGAAWAPPPNLPDPKFESKAALLAARGPEELLCFTERLEDLVCFWEEAASAGVGPGNYSFS
YQLEDEPWKLCRLHQAPTARGAVRFWCSLPTADTSSFVPLELRVTAASGAPRYHRVIHINEVVLLDAPVGLVARLADESG
HVVLRWLPPPETPMTSHIRYEVDVSAGNGAGSVQRVEILEGRTECVLSNLRGRTRYTFAVRARMAEPSFGGFWSAWSEPV
SLLTPSDLDPLILTLSLILVVILVLLTVLALLSHRRALKQKIWPGIPSPESEFEGLFTTHKGNFQLWLYQNDGCLWWSPC
TPFTEDPPASLEVLSERCWGTMQAVEPGTDDEGPLLEPVGSEHAQDTYLVLDKWLLPRNPPSEDLPGPGGSVDIVAMDEG
SEASSCSSALASKPSPEGASAASFEYTILDPSSQLLRPWTLCPELPPTPPHLKYLYLVVSDSGISTDYSSGDSQGAQGGL
SDGPYSNPYENSLIPAAEPLPPSYVACS*

Gene Symbol:EPOR
Accession:NR_033663
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000276763 CLINVAR
  RCV002521181 CLINVAR
dbSNP (RS) rs138190746 CLINVAR
MedGen C3661900 CLINVAR
  C4551637 CLINVAR
NCBI Gene EPOR CLINVAR
OMIM 133100 CLINVAR
  133171 CLINVAR