RGD:13468445 Rat Genome Database

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Variant: RGD:13468445 -  Homo sapiens

RGD ID: 13468445
RS ID: rs778123315
ClinVar ID: CV469639
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPH1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,897,436
GRCh38 21 42,477,326
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_543136.1:p.Thr231Met
NC_000021.8:g.43897436G>A
NC_000021.9:g.42477326G>A
NP_001273435.1:p.Thr193Met
More... 		05/24/2017 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPH1
Accession:XM_011529786
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTYEGSYEFGKRHGQGIYKFKNGARYIGEYVRNKKHGQG
TFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQ
GKFLNKNERGEEEEEEELVTVVPKWKATQITELALWTPTLPKKPTSMDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDM
RPGDEDADVLREESREYDQEEFRYDMDEGNINSEEEETRQSDLQD*

Gene Symbol:RSPH1
Accession:NM_080860
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTYEGSYEFGKRHGQGIYKFKNGARYIGEYVRNKKHGQG
TFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQ
GKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEEEEELVTVVPKWKATQITELALWTPTLPKKPTSMDGPGQDAPG
AESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREESREYDQEEFRYDMDEGNINSEEEETRQSDLQD*

Gene Symbol:RSPH1
Accession:NM_001286506
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDLGSEELEEEGENDIGGIYKFKNGARYIGEYVRNKKHGQGTFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWF
AHQRHGQGTYLYAETGSKYVGTWVNGQQEGTAELIHLNHRYQGKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEE
EEELVTVVPKWKATQITELALWTPTLPKKPTSMDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREES
REYDQEEFRYDMDEGNINSEEEETRQSDLQD*

Gene Symbol:RSPH1
Accession:XM_005261208
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDLGSEELEEEGENDIGVRAPGEWANDLRHGHGVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGTWVNGQQEGT
AELIHLNHRYQGKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEEEEELVTVVPKWKATQITELALWTPTLPKKPT
SMDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREESREYDQEEFRYDMDEGNINSEEEETRQSDLQD
*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000558581 CLINVAR
  RCV003159722 CLINVAR
dbSNP (RS) rs778123315 CLINVAR
MedGen C0008780 CLINVAR
  C0950123 CLINVAR
NCBI Gene RSPH1 CLINVAR
OMIM 609314 CLINVAR