RGD:156035397 Rat Genome Database

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Variant: RGD:156035397 -  Homo sapiens

RGD ID: 156035397
ClinVar ID: CV2253062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX6B1P5  HAUS3  POLN  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 2,240,430
GRCh38 4 2,238,703
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181808.4:c.-13+2817T>G
NM_001303143.2:c.1250T>G
NM_024511.7:c.1250T>G
NG_016561.1:g.4553A>C
More... 		12/13/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLN
Accession:NM_181808
Location:5UTRS;INTRON

Gene Symbol:HAUS3
Accession:NM_024511
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSCGNEFVETLKKIGYPKADNLNGEDFDWLFEGVEDESFLKWFCGNVNEQNVLSERELEAFSILQKSGKPILEGAALDEA
LKTCKTSDLKTPRLDDKELEKLEDEVQTLLKLKNLKIQRRNKCQLMASVTSHKSLRLNAKEEEATKKLKQSQGILNAMIT
KISNELQALTDEVTQLMMFFRHSNLGQGTNPLVFLSQFSLEKYLSQEEQSTAALTLYTKKQFFQGIHEVVESSNEDNFQL
LDIQTPSICDNQEILEERRLEMARLQLAYICAQHQLIHLKASNSSMKSSIKWAEESLHSLTSKAVDKENLDAKISSLTSE
IMKLEKEVTQIKDRSLPAVVRENAQLLNMPVVKGDFDLQIAKQDYYTARQELVLNQLIKQKASFELLQLSYEIELRKHRD
IYRQLENLVQELSQSNTMLYKQLEMLTDPSVSQQINPRNTIDTKDYSTHRLYQVLEGENKKKELFLTHGNLEEVAEKLKQ
NISLVQDQLAVSAQEHSFFLSKRNKDVDMLCDTLYQGGNQLLLSDQELTEQFHKVESQLNKLNHLLTDILADVKTKRKTL
ANNKLHQMEREFYVYFLKDEDYLKDIVENLETQSKIKAVSLED*

Gene Symbol:HAUS3
Accession:NM_001303143
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSCGNEFVETLKKIGYPKADNLNGEDFDWLFEGVEDESFLKWFCGNVNEQNVLSERELEAFSILQKSGKPILEGAALDEA
LKTCKTSDLKTPRLDDKELEKLEDEVQTLLKLKNLKIQRRNKCQLMASVTSHKSLRLNAKEEEATKKLKQSQGILNAMIT
KISNELQALTDEVTQLMMFFRHSNLGQGTNPLVFLSQFSLEKYLSQEEQSTAALTLYTKKQFFQGIHEVVESSNEDNFQL
LDIQTPSICDNQEILEERRLEMARLQLAYICAQHQLIHLKASNSSMKSSIKWAEESLHSLTSKAVDKENLDAKISSLTSE
IMKLEKEVTQIKDRSLPAVVRENAQLLNMPVVKGDFDLQIAKQDYYTARQELVLNQLIKQKASFELLQLSYEIELRKHRD
IYRQLENLVQELSQSNTMLYKQLEMLTDPSVSQQINPRNTIDTKDYSTHRLYQVLEGENKKKELFLTHGNLEEVAEKLKQ
NISLVQDQLAVSAQEHSFFLSKRNKDVDMLCDTLYQGGNQLLLSDQELTEQFHKVESQLNKLNHLLTDILADVKTKRKTL
ANNKLHQMEREFYVYFLKDEDYLKDIVENLETQSKIKAVSLED*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002821359 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene HAUS3 CLINVAR
  POLN CLINVAR
OMIM 610887 CLINVAR
  613430 CLINVAR