RGD:38466922 Rat Genome Database

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Variant: RGD:38466922 -  Homo sapiens

RGD ID: 38466922
RS ID: rs894016061
ClinVar ID: CV944262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 125,890,035
GRCh38 5 126,554,343
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.1009-2206C>T
NM_001201377.2:c.1060C>T
NM_001182.5:c.1144C>T
NC_000005.10:g.126554343G>A
More... 		04/11/2023 intron variant uncertain significance 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_001182
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 382
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARV
RQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGL
SRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALF
AAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFFGAVEEAKKEGGTVVYGGK
VMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ*

Gene Symbol:ALDH7A1
Accession:NM_001201377
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAP
KRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLV
GIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVN
LLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVN
RLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFFGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTET
FAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRES
GSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ*

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001230342 CLINVAR
  RCV001532517 CLINVAR
dbSNP (RS) rs894016061 CLINVAR
MedGen C1849508 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR