RGD:11599040 Rat Genome Database

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Variant: RGD:11599040 -  Homo sapiens

RGD ID: 11599040
RS ID: rs76889088
ClinVar ID: CV321868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NODAL  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 72,192,630
GRCh38 10 70,432,874
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.70432874T>A
NC_000010.10:g.72192630T>A
NG_012448.2:g.20075A>T
NM_001329906.2:c.*62A>T
More... 		11/09/2019 3 prime utr variant benign|likely benign 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_018055
Location:3UTRS;EXON

Gene Symbol:NODAL
Accession:NM_001329906
Location:3UTRS;EXON

Gene Symbol:NODAL
Accession:XM_024448028
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262553 CLINVAR
  RCV000368813 CLINVAR
  RCV001575103 CLINVAR
dbSNP (RS) rs76889088 CLINVAR
MedGen C0079541 CLINVAR
  C3495537 CLINVAR
  C3661900 CLINVAR
NCBI Gene NODAL CLINVAR
OMIM 236100 CLINVAR
  270100 CLINVAR
  601265 CLINVAR
SNOMED CT 30915001 CLINVAR