RGD:11603676 Rat Genome Database

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Variant: RGD:11603676 -  Homo sapiens

RGD ID: 11603676
RS ID: rs146471900
ClinVar ID: CV321874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127818216  NODAL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 72,201,299
GRCh38 10 70,441,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.70441543G>A
NC_000010.10:g.72201299G>A
NP_060525.3:p.Ala42Val
NG_012448.2:g.11406C>T
More... 		06/14/2016 intron variant uncertain significance ARHINENCEPHALY; Heterotaxy, visceral, 5; Holoprosencephaly; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NODAL
Accession:NM_001329906
Location:5UTRS;INTRON

Gene Symbol:NODAL
Accession:XM_024448028
Location:5UTRS;INTRON

Gene Symbol:NODAL
Accession:NM_018055
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLVYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFS
FLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLS
KWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKP
LSMLYVDNGRVLLDHHKDMIVEECGCL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000302530 CLINVAR
  RCV000390453 CLINVAR
  RCV001788192 CLINVAR
dbSNP (RS) rs146471900 CLINVAR
MedGen C0079541 CLINVAR
  C3495537 CLINVAR
  CN517202 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 236100 CLINVAR
  270100 CLINVAR
  601265 CLINVAR
SNOMED CT 30915001 CLINVAR