RGD:8599566 Rat Genome Database

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Variant: RGD:8599566 -  Homo sapiens

RGD ID: 8599566
RS ID: rs114202595
ClinVar ID: CV28829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 127,254,587
GRCh38 7 127,614,533
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012848.1:g.6194C>T
NC_000007.14:g.127614533G>A
NC_000007.13:g.127254587G>A
NM_001366110.1:c.385C>T
More... 		09/24/2021 missense variant pathogenic|benign|uncertain significance AllHighlyPenetrant; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Mason type diabetes; none provided; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PAX4
Accession:NM_001366111
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLWALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVD
VAWPCLDASLAHHLIGGAGKATPTHFSH*

Gene Symbol:PAX4
Accession:NM_001366110
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLWALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWGHLPPQPNSLDSGLLC
LPCPSSHCHLASLSGSQALLWPGCPLLYGLE*
Variant Samples
Additional References at PubMed
PMID:11723072   PMID:15596543   PMID:16423628   PMID:21263211   PMID:27334367   PMID:28492532   PMID:31264968   PMID:33031055  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014800 CLINVAR
  RCV001851858 CLINVAR
  RCV002227035 CLINVAR
  RCV002247339 CLINVAR
dbSNP (RS) rs114202595 CLINVAR
MedGen C0011860 CLINVAR
  C0342276 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 125853 CLINVAR
  167413 CLINVAR
  606391 CLINVAR
OMIM Allele 167413.0001 CLINVAR
SNOMED CT 28453007 CLINVAR
  44054006 CLINVAR