RGD:8601376 Rat Genome Database

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Variant: RGD:8601376 -  Homo sapiens

RGD ID: 8601376
RS ID: rs113994181
ClinVar ID: CV34592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 72,987,535
GRCh38 15 72,695,194
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009416.2:g.14010A>G
NC_000015.10:g.72695194A>G
NC_000015.9:g.72987535A>G
NM_033028.3:c.42A>G
More... 		01/24/2024 intron|intron variant|non-coding transcript variant|synonymous variant benign|likely benign antenatal|neonatal/infancy 1-9 / 1 000 000|1-9 / 100 000
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:XM_017022454
Location:5UTRS;INTRON

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

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

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

Gene Symbol:BBS4
Accession:XM_017022450
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTVVPSFSVSGVWKRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYV
QALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFN
KAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVA
LTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQP
KMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDS
EMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPP
SLPLEPEPAVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:NM_001320665
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQAILAAGSMMQTHGDFDVALTKYRVVA
CAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYML
LAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQK
LGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEP
AVESSPTETSEQIREK*

Gene Symbol:BBS4
Accession:NM_033028
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLE
GNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHN
ALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQY
ASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEK
KVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK*

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

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

Gene Symbol:BBS4
Accession:XM_047432914
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000020944 CLINVAR
dbSNP (RS) rs113994181 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene BBS4 CLINVAR
OMIM 600374 CLINVAR
SNOMED CT 5619004 CLINVAR