RGD:11581032 Rat Genome Database

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Variant: RGD:11581032 -  Homo sapiens

RGD ID: 11581032
RS ID: rs775810457
ClinVar ID: CV280703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHDDS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 26,795,465
GRCh38 1 26,468,974
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024887.3:c.848T>C
NG_029786.1:g.41693T>C
NC_000001.11:g.26468974T>C
NC_000001.10:g.26795465T>C
More... 		06/14/2016 missense variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DHDDS
Accession:XM_047430859
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQQKARDMYAEERKRQQLERD
QATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430864
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQ
ATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:NM_001243565
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPH
PDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTE
QLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:NM_001243564
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQ
ATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:NM_001319959
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGV
EQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSV
LQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
*

Gene Symbol:DHDDS
Accession:XM_047430860
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQQKARDMYAEERKRQQLERD
QATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430857
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELK
RADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430853
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELK
RADWLARLGTASA*

Gene Symbol:DHDDS
Accession:NM_024887
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALEL
KRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430862
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQQKARDMYAEERKRQQLERD
QATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430849
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALEL
KRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430851
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALEL
KRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430850
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALEL
KRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430852
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALEL
KRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:NM_205861
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELK
RADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430863
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQ
ATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430854
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELK
RADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430865
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQ
ATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430856
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELK
RADWLARLGTASA*

Gene Symbol:DHDDS
Accession:XM_047430861
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSI
ENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNNDISESLLDKCLYT
NRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQQKARDMYAEERKRQQLERD
QATVTEQLPREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000352641 CLINVAR
  RCV003640886 CLINVAR
dbSNP (RS) rs775810457 CLINVAR
MedGen C0035334 CLINVAR
  C3151227 CLINVAR
NCBI Gene DHDDS CLINVAR
OMIM 268000 CLINVAR
  608172 CLINVAR
  613861 CLINVAR
SNOMED CT 28835009 CLINVAR