RGD:11588497 Rat Genome Database

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Variant: RGD:11588497 -  Homo sapiens

RGD ID: 11588497
RS ID: rs143444882
ClinVar ID: CV296468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCT5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 10,261,748
GRCh38 5 10,261,636
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_361:g.16467G>A
NG_012160.1:g.16467G>A
NC_000005.10:g.10261636G>A
NC_000005.9:g.10261748G>A
More... 		12/31/2019 missense variant likely benign|uncertain significance Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCT5
Accession:NM_001306155
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKAVANTMRTSLGPNVLAGALLEEAEQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTL
GSKVVNSCHRQMAEIAVNAVLTVADMERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMPKKVEDAKIAILTC
PFEPPKPKTKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKETGANLAICQWGFDDEANHLLLQNNLPAVRWVGGPEIELI
AIATGGRIVPRFSELTAEKLGFADLVQEISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLI
RDNRVVYGGGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRARQVKEMNPALGIDC
LHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESEE*

Gene Symbol:CCT5
Accession:NM_001306154
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMGTLAFDEYGRPFLIIKDQDRKSRLMGLEALKSHIMAAKAVANTMRTSLGPNVLAGALLEEAEQLLDRGIHPIRIAD
GYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNSCHRQMAEIAVNAVLTVADMERRDVDFELIKVEGKV
GGRLEDTKLIKGVIVDKDFSHPQMPKKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKET
GANLAICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRIVPRFSELTAEKLGFADLVQEISFGTTKDKMLVIE
QCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVYGGGAAEISCALAVSQEADKCPTLEQYAMRAFADAL
EVIPMALSENSGMNPIQTMTEVRARQVKEMNPALGIDCLHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRK
PGESEE*

Gene Symbol:CCT5
Accession:NM_001306156
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 319
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAKAVANTMRTSLGPNGLDKMMVDKDGDVTVTNDGATILSMMDVDHQIAKLMVELSKSQDDEIGDGTTGVVVLAGALLE
EAEQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNSCHRQMAEIAVNAVLTVAD
MERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMPKKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQ
KYEKEKFEEMIQQIKETGANLAICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRIVPRFSELTAEKLGFADL
VQEISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVYGGGAAEISCALAVSQEAD
KCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRARQVKEMNPALGIDCLHKGTNDMKQQHVIETLIGKKQQIS
LATQMVRMILKIDDIRKPGESEE*

Gene Symbol:CCT5
Accession:NM_012073
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASMGTLAFDEYGRPFLIIKDQDRKSRLMGLEALKSHIMAAKAVANTMRTSLGPNGLDKMMVDKDGDVTVTNDGATILSM
MDVDHQIAKLMVELSKSQDDEIGDGTTGVVVLAGALLEEAEQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIK
DTEPLIQTAKTTLGSKVVNSCHRQMAEIAVNAVLTVADMERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMP
KKVEDAKIAILTCPFEPPKPKTKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKETGANLAICQWGFDDEANHLLLQNNLP
AVRWVGGPEIELIAIATGGRIVPRFSELTAEKLGFADLVQEISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKR
SLHDALCVIRNLIRDNRVVYGGGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRAR
QVKEMNPALGIDCLHKGTNDMKQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESEE*

Gene Symbol:CCT5
Accession:NM_001306153
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNSSLGPTIEKLSVSHIMAAKAVANTMRTSLGPNGLDKMMVDKDGDVTVTNDGATILSMMDVDHQIAKLMVELSKSQDDE
IGDGTTGVVVLAGALLEEAEQLLDRGIHPIRIADGYEQAARVAIEHLDKISDSVLVDIKDTEPLIQTAKTTLGSKVVNSC
HRQMAEIAVNAVLTVADMERRDVDFELIKVEGKVGGRLEDTKLIKGVIVDKDFSHPQMPKKVEDAKIAILTCPFEPPKPK
TKHKLDVTSVEDYKALQKYEKEKFEEMIQQIKETGANLAICQWGFDDEANHLLLQNNLPAVRWVGGPEIELIAIATGGRI
VPRFSELTAEKLGFADLVQEISFGTTKDKMLVIEQCKNSRAVTIFIRGGNKMIIEEAKRSLHDALCVIRNLIRDNRVVYG
GGAAEISCALAVSQEADKCPTLEQYAMRAFADALEVIPMALSENSGMNPIQTMTEVRARQVKEMNPALGIDCLHKGTNDM
KQQHVIETLIGKKQQISLATQMVRMILKIDDIRKPGESEE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000862527 CLINVAR
dbSNP (RS) rs143444882 CLINVAR
MedGen C1850395 CLINVAR
NCBI Gene CCT5 CLINVAR
OMIM 256840 CLINVAR
  610150 CLINVAR