RGD:11599304 Rat Genome Database

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Variant: RGD:11599304 -  Homo sapiens

RGD ID: 11599304
RS ID: rs77151171
ClinVar ID: CV322566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NODAL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 72,195,576
GRCh38 10 70,435,820
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.70435820G>A
NC_000010.10:g.72195576G>A
NP_060525.3:p.Pro119=
NG_012448.2:g.17129C>T
More... 		12/31/2019 5 prime utr variant benign|likely benign infancy 1-5 / 10 000 ARHINENCEPHALY; Heterotaxy, visceral, 5; Holoprosencephaly; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL
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;EXON

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

Gene Symbol:NODAL
Accession:NM_018055
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFS
FLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVTRPLS
KWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKP
LSMLYVDNGRVLLDHHKDMIVEECGCL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000264437 CLINVAR
  RCV000459943 CLINVAR
dbSNP (RS) rs77151171 CLINVAR
MedGen C0079541 CLINVAR
  C3495537 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 236100 CLINVAR
  270100 CLINVAR
  601265 CLINVAR
SNOMED CT 30915001 CLINVAR