rs747656068 Rat Genome Database

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Variant: rs747656068 -  Homo sapiens

RGD ID: 126751722
RS ID: rs747656068
ClinVar ID: CV1009866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS1  ZDHHC24  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 66,291,297
GRCh38 11 66,523,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001348571.2:c.*22-2360T>C
NC_000011.10:g.66523826A>G
NG_009093.1:g.18179A>G
NM_024649.5:c.1054A>G
More...
04/18/2022 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1009866HumanBardet-Biedl syndrome  IAGP 8554872ClinVar Annotator: match by term: Bardet-Biedl syndromeClinVarPMID:25741868 and PMID:28492532
CV1009866HumanBardet-Biedl syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Bardet-Biedl syndrome 1ClinVarPMID:25741868 and PMID:28492532


Gene Symbol:ZDHHC24
Accession:XM_005273874
Location:3UTRS;INTRON

Gene Symbol:ZDHHC24
Accession:NM_001348571
Location:3UTRS;INTRON

Gene Symbol:BBS1
Accession:NM_024649
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTES
PLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIR
ETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKK
LWTVQMPAAILTMNLLEQHSRGLQAVMAGLADGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIK
ILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGI
SDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA*

Gene Symbol:ZDHHC24
Accession:XM_011544893
Location:INTRON

Gene Symbol:ZDHHC24
Accession:NM_207340
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544894
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_047426709
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_047426710
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XR_949860
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_007062471
Location:INTRON;NON-CODING

Gene Symbol:ZDHHC24
Accession:XR_007062470
Location:INTRON;NON-CODING

.
PMID:25741868   PMID:28492532  



1 to 10 of 10 rows
Database
Acc Id
Source(s)
ClinVar RCV001326974 CLINVAR
  RCV001831024 CLINVAR
dbSNP (RS) rs747656068 CLINVAR
MedGen C0752166 CLINVAR
  C2936862 CLINVAR
NCBI Gene BBS1 CLINVAR
  ZDHHC24 CLINVAR
OMIM 209900 CLINVAR
  209901 CLINVAR
SNOMED CT 5619004 CLINVAR
1 to 10 of 10 rows