RGD:13540689 Rat Genome Database

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Variant: RGD:13540689 -  Homo sapiens

RGD ID: 13540689
RS ID: rs749516893
ClinVar ID: CV501109
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 125,906,554
GRCh38 5 126,570,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008600.2:g.29529T>C
NC_000005.10:g.126570862A>G
NC_000005.9:g.125906554A>G
NM_001201377.2:c.612-3T>C
More... 		10/20/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001201377
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000615061 CLINVAR
  RCV001868060 CLINVAR
dbSNP (RS) rs749516893 CLINVAR
MedGen C1849508 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR