RGD:151355897 Rat Genome Database

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Variant: RGD:151355897 -  Homo sapiens

RGD ID: 151355897
RS ID: rs1290905638
ClinVar ID: CV1327080
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 127,253,827
GRCh38 7 127,613,773
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.545C>T
NM_001366111.1:c.545C>T
NG_012848.1:g.6954C>T
NC_000007.14:g.127613773G>A
More... 		04/08/2021 missense variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PAX4
Accession:NM_001366110
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQVEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWGHLPPQPNSLDSGLLC
LPCPSSHCHLASLSGSQALLWPGCPLLYGLE*

Gene Symbol:PAX4
Accession:NM_001366111
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQVEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVD
VAWPCLDASLAHHLIGGAGKATPTHFSH*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001822250 CLINVAR
  RCV001869656 CLINVAR
dbSNP (RS) rs1290905638 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 167413 CLINVAR