RGD:8596250 Rat Genome Database

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Variant: RGD:8596250 -  Homo sapiens

RGD ID: 8596250
RS ID: rs1807467
ClinVar ID: CV19048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRODH  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 18,905,893
GRCh38 22 18,918,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000022.11:g.18918380C>A
NC_000022.10:g.18905893C>A
NP_057419.5:p.Ala455Ser
NM_016335.6:c.1363G>T
More... 		06/01/2023 missense variant pathogenic|risk factor|likely benign|uncertain significance all ages|variable Hyperprolinemia type 1; none provided; PROLINE OXIDASE DEFICIENCY; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED; SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC102724788
Accession:NM_001368250
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHWAFG
DRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQA
GLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRF
TEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVE
LARREGWCFGAKLVRGAYLAQERARASEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALR
RMEELGLHPADHRVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLR
RLRTGNLFHRPA*

Gene Symbol:PRODH
Accession:NM_016335
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRRALPALRPCIPRFVPLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQEAYRSRRTWELARSLLVLRLC
AWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEM
ESCTSAAERDGSGTNKRDKQYQAHWAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGR
PQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSL
IDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRK
FNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQERARASEIGYEDPINPTYEATNAMYHRCLDY
VLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHRVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPY
LSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA*

Gene Symbol:PRODH
Accession:NM_001195226
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHWAFG
DRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQA
GLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRF
TEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVE
LARREGWCFGAKLVRGAYLAQERARASEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALR
RMEELGLHPADHRVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLR
RLRTGNLFHRPA*
Variant Samples
Additional References at PubMed
PMID:12217952   PMID:15662599   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004220 CLINVAR
  RCV000004221 CLINVAR
  RCV002512744 CLINVAR
  RCV003430632 CLINVAR
dbSNP (RS) rs1807467 CLINVAR
MedGen C0268529 CLINVAR
  C0950123 CLINVAR
  C1833247 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRODH CLINVAR
OMIM 239500 CLINVAR
  600850 CLINVAR
  606810 CLINVAR
OMIM Allele 606810.0005 CLINVAR
SNOMED CT 61071003 CLINVAR