RGD:12739114 Rat Genome Database

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Variant: RGD:12739114 -  Homo sapiens

RGD ID: 12739114
RS ID: rs1057519034
ClinVar ID: CV361729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFNB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 68,059,566
GRCh38 X 68,839,723
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.15727C>T
NC_000023.11:g.68839723C>T
NC_000023.10:g.68059566C>T
p.[Arg156Cys]
More... 		01/19/2022 missense variant likely pathogenic|uncertain significance neonatal Craniofrontonasal dysostosis; Craniofrontonasal dysplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EFNB1
Accession:NM_004429
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKFLSGKGLVIYPKIGDKLDIICPRAEAGRPYEYYKLYL
VRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNGSLEGLENREGGVCRTCTMKI
IMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKSGPGASGGSSGDPDGFFNSKVAL
FAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAALSLSTLASPKGGSGTAGTEPSDIIIPLRTTENNYCPHYEKV
SGDYGHPVYIVQEMPPQSPANIYYKV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000415493 CLINVAR
  RCV002269269 CLINVAR
dbSNP (RS) rs1057519034 CLINVAR
MedGen C0220767 CLINVAR
  CN517202 CLINVAR
NCBI Gene EFNB1 CLINVAR
OMIM 300035 CLINVAR
  304110 CLINVAR