RGD:8598770 Rat Genome Database

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Variant: RGD:8598770 -  Homo sapiens

RGD ID: 8598770
RS ID: rs104894803
ClinVar ID: CV26753
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFNB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 68,049,729
GRCh38 X 68,829,886
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008887.1:g.5890G>A
NC_000023.11:g.68829886G>A
NC_000023.10:g.68049729G>A
NP_004420.1:p.Trp37Ter
More... 		02/05/2010 nonsense|stop-gain pathogenic neonatal/infancy Craniofrontonasal dysostosis; Craniofrontonasal dysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EFNB1
Accession:NM_004429
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVS*SSLNPKFLSGKGLVIYPKIGDKLDIICPRAEAGRPYEYYKLYL
VRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNGSLEGLENREGGVCRTRTMKI
IMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKSGPGASGGSSGDPDGFFNSKVAL
FAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAALSLSTLASPKGGSGTAGTEPSDIIIPLRTTENNYCPHYEKV
SGDYGHPVYIVQEMPPQSPANIYYKV*
Variant Samples
Additional References at PubMed
PMID:16685650  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012480 CLINVAR
dbSNP (RS) rs104894803 CLINVAR
MedGen C0220767 CLINVAR
NCBI Gene EFNB1 CLINVAR
OMIM 300035 CLINVAR
  304110 CLINVAR
OMIM Allele 300035.0009 CLINVAR