RGD:13216320 Rat Genome Database

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Variant: RGD:13216320 -  Homo sapiens

RGD ID: 13216320
RS ID: rs139309837
ClinVar ID: CV428673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 127,251,634
GRCh38 7 127,611,580
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.127611580A>G
NC_000007.13:g.127251634A>G
NG_012848.1:g.9147T>C
NP_001353040.1:p.Cys290Arg
More... 		07/11/2019 missense variant likely benign|uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PAX4
Accession:NM_001366110
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERRLSDTPPKACLKPCWGHLPPQPNSLDSGLLC
LPCPSSHCHLASLSGSQALLWPGCPLLYGLE*

Gene Symbol:PAX4
Accession:NM_001366111
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERRLSDTPPKACLKPCWDCGSFLLPVIAPSCVD
VAWPCLDASLAHHLIGGAGKATPTHFSH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503620 CLINVAR
  RCV002056864 CLINVAR
  RCV003935298 CLINVAR
dbSNP (RS) rs139309837 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 167413 CLINVAR