RGD:26899375 Rat Genome Database

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Variant: RGD:26899375 -  Homo sapiens

RGD ID: 26899375
RS ID: rs935743330
ClinVar ID: CV831984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR1C  RSPH9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 43,618,273
GRCh38 6 43,650,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193341.2:c.389T>C
NM_152732.5:c.389T>C
NG_028283.4:g.138449T>C
NG_023436.1:g.10507T>C
More... 		10/29/2019 intron variant|missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPH9
Accession:NM_001424119
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSEAVVQGDFTWLLSRC
GFGWPCSWDSCSVSMRVLEHPDGEGQCPGGAAQPALAGPHLLPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNR
V*

Gene Symbol:RSPH9
Accession:NM_152732
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLR
SLLWPGLTFYHAPRTKNYGYVYVGTGEKNMDLPFML*

Gene Symbol:RSPH9
Accession:NM_001424120
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVIDKAVAIIPRGALFKTPFGPTHVNRTFEG
LSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSWSIQMERGNALVVLRSLLWPGLTFYHAPRT
KNYGYVYVGTGEKNMDLPFML*

Gene Symbol:RSPH9
Accession:NM_001193341
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVIDKAVAIIPRGALFKTPFGPTHVNRTFEG
LSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGSEAVVQGDFTWLLSRCGFGWPCSWDSCSVSM
RVLEHPDGEGQCPGGAAQPALAGPHLLPCSPHQELWLRLRGHWREEHGLALHAIEWEPAWMFLNRV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGSLLS*

Gene Symbol:RSPH9
Accession:NM_001424121
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDADSLLLSLELASGSGQGLSPDRRASLLTSLMLVKRDYRYDRVLFWGRILGLVADYYIAQGLSEDQLAPRKTLYSLNCT
EWSLLPPATEEMVAQSSVVKGRFMGDPSYEYEHTELQKVNEGEKVFEEETVVQIKEETRLVSVIDQIDKAVAIIPRGALF
KTPFGPTHVNRTFEGLSLSEAKKLSSYFHFREPVELKNKTLLEKADLDPSLDFMDSLEHDIPKGNSPLPGGHGICPQAIA
VGHATCHFPLRLEPRA*

Gene Symbol:RSPH9
Accession:NR_187614
Location:EXON;NON-CODING

Gene Symbol:POLR1C
Accession:NM_001318876
Location:INTRON

Gene Symbol:POLR1C
Accession:XM_047419577
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_001363658
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:POLR1C
Accession:NM_203290
Location:INTRON

Gene Symbol:RSPH9
Accession:NR_187613
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001035744 CLINVAR
dbSNP (RS) rs935743330 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene POLR1C CLINVAR
  RSPH9 CLINVAR
OMIM 610060 CLINVAR
  612648 CLINVAR