RGD:12905428 Rat Genome Database

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Variant: RGD:12905428 -  Homo sapiens

RGD ID: 12905428
RS ID: rs1085307110
ClinVar ID: CV389217
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: CEP63  KY  
Reference Nucleotide: -
Variant Nucleotide: TATCGACATGTGCTGTATCTATCGACAT
Position
Assembly Chr Position
GRCh37 3 134,369,751
GRCh38 3 134,650,909
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350859.2:c.51_52insTATCGACATGTGCTGTATCTATCGACAT
NM_001350860.2:c.51_52insTATCGACATGTGCTGTATCTATCGACAT
NM_001366276.1:c.51_52insTATCGACATGTGCTGTATCTATCGACAT
NP_001337789.1:p.Val18fs
More... 		02/14/2017 frameshift variant pathogenic Familial spastic paraparesis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KY
Accession:NM_001350859
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIDHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHGTQLTVEVHPRDAM
PQLLKKFSLAKRMYDTGLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLL
QEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQ
TGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQF
ENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQI
FAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASL
HGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWG
QDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKY
KVNAQ*

Gene Symbol:KY
Accession:NM_001366276
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIDHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHGTQLTVEVHPRDAM
PQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLLQEAHT
DLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSF
SGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMY
HKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQIFAKGN
SDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASLHGDDG
PITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWGQDNEL
LEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKYKVNAQ
*

Gene Symbol:KY
Accession:NM_178554
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIDHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHENLVEKQHPQQPQV
ITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYAS
QVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAG
VQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPD
NKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGM
KLEVYPPTMGTHKLQIFAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRC
SISFSVEEGINVLASLHGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCAN
TKVNWPMFPESFGNWGQDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVM
VLENANHNFYSYILKYKVNAQ*

Gene Symbol:KY
Accession:NM_001366277
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIDHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHENLVEKQHPQQPQV
ITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYAS
QVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAG
VQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPD
NKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIRTGEPGAGASVLAAGMEHFALSSRSPPETALSRHALPDA
WLVSLAQSLCVHVDEWRLLRQPRPSGQGRAIGHISRDKSSLTLA*

Gene Symbol:KY
Accession:NM_001350860
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIDHSEKRRAAQGTLSDQQANPSSLLQRGGGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNT
RPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIA
AAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVD
STWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIR
TGEPGAGASVLAAGMEHFALSSRSPPETALSRHALPDAWLVSLAQSLCVHVDEWRLLRQPRPSGQGRAIGHISRDKSSLT
LA*

Gene Symbol:CEP63
Accession:NM_025180
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449001
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042384
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353113
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448999
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449005
Location:INTRON

Gene Symbol:CEP63
Accession:XM_005247797
Location:INTRON

Gene Symbol:CEP63
Accession:XM_006713760
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353120
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453769
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353126
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449014
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353109
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353124
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353112
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449010
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449013
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353108
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449000
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353122
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449007
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449009
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448998
Location:INTRON

Gene Symbol:CEP63
Accession:XM_005247795
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453777
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453772
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449011
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007249
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353121
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042400
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353119
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453771
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353123
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449002
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449015
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449008
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042383
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007248
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353117
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353125
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449006
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448996
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007247
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453778
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449003
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353110
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353118
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353111
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453768
Location:INTRON

Gene Symbol:CEP63
Accession:NR_148353
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095733
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095731
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095729
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095730
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_002959589
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095735
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095734
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148355
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148352
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095732
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148354
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28488683  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000488883 CLINVAR
dbSNP (RS) rs1085307110 CLINVAR
MedGen C0037773 CLINVAR
NCBI Gene CEP63 CLINVAR
  KY CLINVAR
OMIM 605739 CLINVAR
  614724 CLINVAR
SNOMED CT 39912006 CLINVAR