rs1845341646 Rat Genome Database

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Variant: rs1845341646 -  Homo sapiens

RGD ID: 28906996
RS ID: rs1845341646
ClinVar ID: CV866084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NODAL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 72,195,466
GRCh38 10 70,435,710
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329906.2:c.68C>T
NM_018055.5:c.467C>T
NG_012448.2:g.17239C>T
NC_000010.11:g.70435710G>A
More... 		04/27/2017 missense variant uncertain significance 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_018055
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHAHCLPFLLHAWWALLQAGAATVATALLRTRGQPSSPSPLAYMLSLYRDPLPRADIIRSLQAEDVAVDGQNWTFAFDFS
FLSQQEDLAWAELRLQLSSPVDLPTEGSLAIEIFHQPKPDTEQASDSCLERFQMDLFTVTLSQVTFSLGSMVLEVIRPLS
KWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLLWEAESSWRAQEGQLSWEWGKRHRRHHL
PDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNHAYIQSLLKRYQPHRVPSTCCAPVKTKP
LSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:NM_001329906
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVIRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*

Gene Symbol:NODAL
Accession:XM_024448028
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLFTVTLSQVTFSLGSMVLEVIRPLSKWLKHPGALEKQMSRVAGECWPRPPTPPATNVLLMLYSNLSQEQRQLGGSTLL
WEAESSWRAQEGQLSWEWGKRHRRHHLPDRSQLCRKVKFQVDFNLIGWGSWIIYPKQYNAYRCEGECPNPVGEEFHPTNH
AYIQSLLKRYQPHRVPSTCCAPVKTKPLSMLYVDNGRVLLDHHKDMIVEECGCL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106971 CLINVAR
  RCV001107628 CLINVAR
dbSNP (RS) rs1845341646 CLINVAR
MedGen C0079541 CLINVAR
  C3495537 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 236100 CLINVAR
  270100 CLINVAR
  601265 CLINVAR
SNOMED CT 30915001 CLINVAR