RGD:14396504 Rat Genome Database

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Variant: RGD:14396504 -  Homo sapiens

RGD ID: 14396504
RS ID: rs561343926
ClinVar ID: CV612270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH7A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 125,882,025
GRCh38 5 126,546,333
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001182.5:c.1556G>A
NG_008600.2:g.54058G>A
NC_000005.10:g.126546333C>T
NC_000005.9:g.125882025C>T
More... 		09/09/2020 missense variant conflicting interpretations of pathogenicity|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:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARV
RQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGL
SRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALF
AAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGK
VMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRKSTCTINYSKDLPLAQGIKFQ*

Gene Symbol:ALDH7A1
Accession:NM_001201377
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 491
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAP
KRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLV
GIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVN
LLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVN
RLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTET
FAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRES
GSDAWKQYMRKSTCTINYSKDLPLAQGIKFQ*

Gene Symbol:ALDH7A1
Accession:NM_001202404
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARV
RQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGL
SRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALF
AAVGTAGQRCTTARRLVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDL
GRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRKSTCTINYSKDLPLAQGIKFQ*
Variant Samples
Additional References at PubMed
PMID:23925287   PMID:25741868   PMID:28492532   PMID:29045138   PMID:34570182  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000761480 CLINVAR
dbSNP (RS) rs561343926 CLINVAR
MedGen C1849508 CLINVAR
NCBI Gene ALDH7A1 CLINVAR
OMIM 107323 CLINVAR
  266100 CLINVAR