RGD:28886839 Rat Genome Database

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Variant: RGD:28886839 -  Homo sapiens

RGD ID: 28886839
RS ID: rs570223278
ClinVar ID: CV892721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 125,880,338
GRCh38 5 126,544,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202404.2:c.*319T>G
NC_000005.10:g.126544646A>C
NC_000005.9:g.125880338A>C
NG_008600.2:g.55745T>G
More... 		01/13/2018 3 prime utr variant uncertain significance EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; 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_001182
Location:3UTRS;EXON

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

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001151273 CLINVAR
dbSNP (RS) rs570223278 CLINVAR
MedGen C1849508 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR