RGD:21068804 Rat Genome Database

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Variant: RGD:21068804 -  Homo sapiens

RGD ID: 21068804
RS ID: rs145079722
ClinVar ID: CV789782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 80,845,026
GRCh38 15 80,552,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014862.4:c.1000C>T
NC_000015.10:g.80552685C>T
NC_000015.9:g.80845026C>T
NP_055677.3:p.Pro334Ser
More... 		05/28/2019 missense variant uncertain significance HYPOTHALAMO-PITUITARY-FRONTOTEMPORAL HYPOPLASIA WITH VISUAL AND RENAL ANOMALIES; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARNT2
Accession:NM_014862
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGPSKFSRENHSEIERRRRNKMT
QYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTGNKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRV
IYVSDSVTPVLNQPQSEWFGSTLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQSSMRMCMGSRRSFICR
MRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEEDADVGQGSKYCLVAIGRLQVT
SSPVCMDMNGMSVSTEFLSRHNSDGIITFVDPRCISVIGYQPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVM
YRFRTKNREWMLIRTSSFTFQNPYSDEIEYIICTNTNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSV
EKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQGSPFPSGHSGKAFSSSVVHVPGVNDIQSSSSTGQNM
SQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGIGTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFA
ESGQSSGQFQGRPSEVWSQWQSQHHGQQSGEQHSHQQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000986174 CLINVAR
  RCV001869331 CLINVAR
  RCV002549657 CLINVAR
dbSNP (RS) rs145079722 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4014708 CLINVAR
NCBI Gene ARNT2 CLINVAR
OMIM 606036 CLINVAR
  615926 CLINVAR