RGD:28886834 Rat Genome Database

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Variant: RGD:28886834 -  Homo sapiens

RGD ID: 28886834
RS ID: rs55923017
ClinVar ID: CV892720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 125,880,332
GRCh38 5 126,544,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008600.3:g.55751A>G
NM_001182.4:c.*325A>G
NG_008600.2:g.55751A>G
NM_001201377.2:c.*325A>G
More... 		01/12/2018 3 prime utr variant likely benign EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; none provided; Pyridoxine dependency; Pyridoxine dependency with seizures; Pyridoxine-Dependent Seizures; Vitamin B6-dependent seizures
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:3UTRS;EXON

Gene Symbol:ALDH7A1
Accession:NM_001182
Location:3UTRS;EXON

Gene Symbol:ALDH7A1
Accession:NM_001201377
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001151272 CLINVAR
  RCV003425952 CLINVAR
dbSNP (RS) rs55923017 CLINVAR
MedGen C1849508 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR