RGD:8560413 Rat Genome Database

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Variant: RGD:8560413 -  Homo sapiens

RGD ID: 8560413
RS ID: rs104894169
ClinVar ID: CV23307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127818213  NODAL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 72,195,385
GRCh38 10 70,435,629
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
NC_000010.11:g.70435629C>T
NC_000010.10:g.72195385C>T
Q96S42:p.Arg183Gln
NG_012448.2:g.17320G>A
More... 		11/24/2020 missense|missense variant pathogenic|benign|uncertain significance neonatal/infancy 1-5 / 10 000|1-9 / 100 000 Heterotaxy, visceral, 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NODAL
Accession:NM_001329906
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGECWPQPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:NM_018055
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFS
FLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLS
KWLKHPGALEKQMSRVAGECWPQPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKP
LSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:XM_024448028
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVTRPLSKWLKHPGALEKQMSRVAGECWPQPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*
Variant Samples
Additional References at PubMed
PMID:9354794   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000008757 CLINVAR
  RCV000081931 CLINVAR
dbSNP (RS) rs104894169 CLINVAR
MedGen C3495537 CLINVAR
  C3661900 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 270100 CLINVAR
  601265 CLINVAR
OMIM Allele 601265.0001 CLINVAR