RGD:8690126 Rat Genome Database

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Variant: RGD:8690126 -  Homo sapiens

RGD ID: 8690126
RS ID: rs138056453
ClinVar ID: CV140076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 125,891,713
GRCh38 5 126,556,021
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008600.2:g.44370G>A
NC_000005.10:g.126556021C>T
NC_000005.9:g.125891713C>T
NM_001182.4:c.1009-6G>A
More... 		12/31/2019 intron variant benign|likely benign antenatal 1-9 / 1 000 000 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_001201377
Location:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:INTRON

Gene Symbol:ALDH7A1
Accession:NM_001182
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000123620 CLINVAR
  RCV000472930 CLINVAR
dbSNP (RS) rs138056453 CLINVAR
MedGen C1849508 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR