rs775513593 Rat Genome Database

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Variant: rs775513593 -  Homo sapiens

RGD ID: 151831082
RS ID: rs775513593
ClinVar ID: CV1494177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS1  ZDHHC24  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 66,293,658
GRCh38 11 66,526,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001348571.2:c.*21+749G>T
NM_024649.5:c.1175C>A
NG_009093.1:g.20540C>A
NC_000011.10:g.66526187C>A
More... 		04/25/2024 intron variant uncertain significance BBS1-related condition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZDHHC24
Accession:XM_011544894
Location:3UTRS;INTRON

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: T to N (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTES
PLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIR
ETAEEPLSIQSLRFLQLELSEMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKK
LWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVIHTPDAVTSLCFGRYGREDNTLIMTNRGGGLIIK
ILKRTAVFVEGGSEVGPPPAQAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLLVPGLNYPLETFVESLSNKGI
SDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA*

Gene Symbol:ZDHHC24
Accession:XM_047426709
Location:INTRON

Gene Symbol:ZDHHC24
Accession:NM_207340
Location:INTRON

Gene Symbol:ZDHHC24
Accession:XM_011544893
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_007062470
Location:INTRON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001984617 CLINVAR
  RCV002507631 CLINVAR
  RCV003289259 CLINVAR
  RCV004743668 CLINVAR
dbSNP (RS) rs775513593 CLINVAR
MedGen C0752166 CLINVAR
  C0950123 CLINVAR
  C2936862 CLINVAR
NCBI Gene BBS1 CLINVAR
  ZDHHC24 CLINVAR
OMIM 209900 CLINVAR
  209901 CLINVAR
SNOMED CT 5619004 CLINVAR