RGD:150534455 Rat Genome Database

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Variant: RGD:150534455 -  Homo sapiens

RGD ID: 150534455
RS ID: rs370095957
ClinVar ID: CV1306143
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 127,255,115
GRCh38 7 127,615,061
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.179G>A
NM_001366111.1:c.179G>A
NC_000007.14:g.127615061C>T
NC_000007.13:g.127255115C>T
More... 		05/10/2022 missense variant uncertain significance Diabetes mellitus MODY type 9; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Maturity-onset diabetes of the young type 9; MODY PAX4 related; MODY type 9; none provided; Type 2 diabetes mellitus; 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_001366110
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGHYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWGHLPPQPNSLDSGLLC
LPCPSSHCHLASLSGSQALLWPGCPLLYGLE*

Gene Symbol:PAX4
Accession:NM_001366111
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGHYYRTGVLEPKGIGGSKPRLA
TPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSE
TPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGA
SQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVD
VAWPCLDASLAHHLIGGAGKATPTHFSH*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001757332 CLINVAR
  RCV002477995 CLINVAR
dbSNP (RS) rs370095957 CLINVAR
MedGen C3661900 CLINVAR
  C3837958 CLINVAR
NCBI Gene PAX4 CLINVAR
OMIM 125853 CLINVAR
  167413 CLINVAR
  612225 CLINVAR
  612227 CLINVAR
SNOMED CT 44054006 CLINVAR