RGD:156449932 Rat Genome Database

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Variant: RGD:156449932 -  Homo sapiens

RGD ID: 156449932
ClinVar ID: CV1938440
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 127,255,061
GRCh38 7 127,615,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366110.1:c.233G>A
NM_001366111.1:c.233G>A
NG_012848.1:g.5720G>A
NC_000007.14:g.127615007C>T
More... 		07/22/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PAX4
Accession:NM_001366110
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPQLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWGHLPPQPNSLDSGLLC
LPCPSSHCHLASLSGSQALLWPGCPLLYGLE*

Gene Symbol:PAX4
Accession:NM_001366111
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPQLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVD
VAWPCLDASLAHHLIGGAGKATPTHFSH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003122063 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 167413 CLINVAR