RGD:26916819 Rat Genome Database

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Variant: RGD:26916819 -  Homo sapiens

RGD ID: 26916819
RS ID: rs1325859248
ClinVar ID: CV844019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 56,543,900
GRCh38 16 56,509,988
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001377456.1:c.581A>G
NM_031885.5:c.581A>G
NG_009312.2:g.15037A>G
NC_000016.10:g.56509988T>C
More... 		12/17/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS2
Accession:NM_001377456
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTA
GVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTG
DNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEGEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPG
TAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHT
ELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDD
IDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTM
KSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S*

Gene Symbol:BBS2
Accession:NM_031885
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTA
GVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTG
DNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEGEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPG
TAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHT
ELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPR
FSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDD
IDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTM
KSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTAS
S*

Gene Symbol:BBS2
Accession:XM_047434412
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTA
GVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTG
DNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEGEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKS
KNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPG
TAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKQ*

Gene Symbol:BBS2
Accession:NR_165296
Location:EXON;NON-CODING

Gene Symbol:BBS2
Accession:NR_165297
Location:EXON;NON-CODING

Gene Symbol:BBS2
Accession:NR_165293
Location:EXON;NON-CODING

Gene Symbol:BBS2
Accession:NR_165294
Location:EXON;NON-CODING

Gene Symbol:BBS2
Accession:NR_165295
Location:EXON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001056596 CLINVAR
  RCV003396693 CLINVAR
dbSNP (RS) rs1325859248 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene BBS2 CLINVAR
OMIM 606151 CLINVAR
SNOMED CT 5619004 CLINVAR