RGD:13462883 Rat Genome Database

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Variant: RGD:13462883 -  Homo sapiens

RGD ID: 13462883
RS ID: rs145265395
ClinVar ID: CV439258
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 73,016,923
GRCh38 15 72,724,582
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.43398A>G
NC_000015.10:g.72724582A>G
NP_149017.2:p.Ile172Val
NM_033028.4:c.514A>G
More...
05/21/2020 5 prime utr variant|missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS4
Accession:XM_047432912
Location:5UTRS;EXON

Gene Symbol:BBS4
Accession:XM_047432914
Location:5UTRS;EXON

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

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

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

Gene Symbol:BBS4
Accession:NM_033028
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYVMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQY
ASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEK
KVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:NM_001320665
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYVMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVALTKYRVVA
CAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYML
LAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQK
LGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEP
AVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:XM_017022450
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYV
QALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFN
KAQDQLHNALNLNRHDLTYVMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVA
LTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQP
KMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDS
EMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPP
SLPLEPEPAVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:XM_047432911
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIWNTRNSTYIFTAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQT
CAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYV
MLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDF
DVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAIN
FQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLE
FDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFT
KPPSLPLEPEPAVESSPTETSEQIREK*

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515003 CLINVAR
  RCV001245807 CLINVAR
  RCV003915439 CLINVAR
dbSNP (RS) rs145265395 CLINVAR
MedGen C0752166 CLINVAR
  C3661900 CLINVAR
NCBI Gene BBS4 CLINVAR
OMIM 600374 CLINVAR
SNOMED CT 5619004 CLINVAR