RGD:9692709 Rat Genome Database

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Variant: RGD:9692709 -  Homo sapiens

RGD ID: 9692709
RS ID: rs727503820
ClinVar ID: CV177150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 72,987,557
GRCh38 15 72,695,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009416.2:g.14032C>T
NC_000015.10:g.72695216C>T
NC_000015.9:g.72987557C>T
NM_033028.5:c.64C>T
More... 		12/12/2019 intron variant|missense variant|non-coding transcript variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS4
Accession:XM_047432911
Location:5UTRS;EXON

Gene Symbol:BBS4
Accession:NM_001252678
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:XM_047432912
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:XM_017022454
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:XM_047432913
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:NM_033028
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPWQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQY
ASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEK
KVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:NM_001320665
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPWQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVALTKYRVVA
CAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYML
LAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQK
LGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEP
AVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:XM_017022450
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTVVPSFSVSGVWKRTQFPVSTESQKPWQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYV
QALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFN
KAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVA
LTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQP
KMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDS
EMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPP
SLPLEPEPAVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:NR_045566
Location:EXON;NON-CODING

Gene Symbol:BBS4
Accession:NR_045565
Location:EXON;NON-CODING

Gene Symbol:BBS4
Accession:XM_047432914
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000152837 CLINVAR
  RCV001246608 CLINVAR
  RCV001823716 CLINVAR
  RCV003415997 CLINVAR
dbSNP (RS) rs727503820 CLINVAR
MedGen C0752166 CLINVAR
  C2936864 CLINVAR
  C3661900 CLINVAR
NCBI Gene BBS4 CLINVAR
OMIM 600374 CLINVAR
  615982 CLINVAR
SNOMED CT 5619004 CLINVAR