RGD:13216519 Rat Genome Database

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Variant: RGD:13216519 -  Homo sapiens

RGD ID: 13216519
RS ID: rs749110699
ClinVar ID: CV429121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIFBP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 70,765,663
GRCh38 10 69,005,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015634.4:c.781A>G
NG_017061.1:g.22187A>G
NC_000010.11:g.69005907A>G
NC_000010.10:g.70765663A>G
More... 		01/13/2018 missense variant uncertain significance AllHighlyPenetrant; Goldberg-Shprintzen megacolon syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIFBP
Accession:NM_015634
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANVPWAEVCEKFQAALALSRVELHKNPEKEPYKSKYSARALLEEVKALLGPAPEDEDERPEAEDGPGAGDHALGLPAEV
VEPEGPVAQRAVRLAVIEFHLGVNHIDTEELSAGEEHLVKCLRLLRRYRLSHDCISLCIQAQNNLGILWSEREEIETAQA
YLESSEALYNQYMKEVGSPPLDPTERFLPEEEKLTEQERSKRFEKVYTHNLYYLAQVYQHLEMFEKAAHYCHSTLKRQLE
HNAYHPIEWAINAATLSQFYVNKLCFMEARHCLSAANVIFGQTGKISATEDTPEAEGEVPELYHQRKGEIARCWIKYCLT
LMQNAQLSMQDNIGELDLDKQSELRALRKKELDEEESIRKKAVQFGTGELCDAISAVEEKVSYLRPLDFEEARELFLLGQ
HYVFEAKEFFQIDGYVTDHIEVVQDHSALFKVLAFFETDMERRCKMHKRRIAMLEPLTVDLNPQYYLLVNRQIQFEIAHA
YYDMMDLKVAIADRLRDPDSHIVKKINNLNKSALKYYQLFLDSLRDPNKVFPEHIGEDVLRPAMLAKFRVARLYGKIITA
DPKKELENLATSLEHYKFIVDYCEKHPEAAQEIEVELELSKEMVSLLPTKMERFRTKMALT*

Gene Symbol:KIFBP
Accession:XM_017016067
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000503869 CLINVAR
  RCV001106693 CLINVAR
dbSNP (RS) rs749110699 CLINVAR
MedGen C1836123 CLINVAR
  CN169374 CLINVAR
NCBI Gene KIF1BP CLINVAR
OMIM 609367 CLINVAR
  609460 CLINVAR