RGD:126762182 Rat Genome Database

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Variant: RGD:126762182 -  Homo sapiens

RGD ID: 126762182
RS ID: rs771366081
ClinVar ID: CV1031568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 37,145,590
GRCh38 14 36,676,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001372076.1:c.959C>T
NM_006194.4:c.959C>T
NG_013357.1:g.23818C>T
NC_000014.9:g.36676385C>T
More... 		08/27/2020 missense variant uncertain significance Hypodontia; TOOTH AGENESIS, FAMILIAL; Tooth agenesis, selective
Disease Annotations     Click to see Annotation Detail View
anodontia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PAX9
Accession:NM_006194
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTT
PTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIY
SYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA
VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPAL
LAFKGMQAAREGSHSVTASAL*

Gene Symbol:PAX9
Accession:NM_001372076
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAFGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKILARYNETGSILPGAIGGSKPRVTT
PTVVKHIRTYKQRDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKIGNLAQQGHYDSYKQHQPTPQPALPYNHIY
SYPSPITAAAAKVPTPPGVPAIPGSVAMPRTWPSSHSVTDILGIRSITDQVSDSSPYHSPKVEEWSSLGRNNFPAAAPHA
VNGLEKGALEQEAKYGQAPNGLPAVGSFVSASSMAPYPTPAQVSPYMTYSAAPSGYVAGHGWQHAGGTSLSPHNCDIPAL
LAFKGMQAAREGSHSVTASAL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001340899 CLINVAR
dbSNP (RS) rs771366081 CLINVAR
MedGen C0020608 CLINVAR
NCBI Gene PAX9 CLINVAR
OMIM 106600 CLINVAR
  167416 CLINVAR
SNOMED CT 64969001 CLINVAR