RGD:15164227 Rat Genome Database

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Variant: RGD:15164227 -  Homo sapiens

RGD ID: 15164227
RS ID: rs770033340
ClinVar ID: CV749173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 125,930,882
GRCh38 5 126,595,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001201377.2:c.-76C>A
NM_001182.5:c.9C>A
NM_001202404.2:c.9C>A
NG_008600.3:g.5201C>A
More... 		09/27/2018 5 prime utr variant likely benign 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:5UTRS;EXON

Gene Symbol:ALDH7A1
Accession:NM_001182
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARV
RQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGL
SRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALF
AAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGK
VMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ*

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARV
RQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGL
SRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALF
AAVGTAGQRCTTARRLVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDL
GRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001493503 CLINVAR
dbSNP (RS) rs770033340 CLINVAR
MedGen C1849508 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR