RGD:155934759 Rat Genome Database

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Variant: RGD:155934759 -  Homo sapiens

RGD ID: 155934759
ClinVar ID: CV2225389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAJC3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 96,412,466
GRCh38 13 95,760,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006260.5:c.719T>C
NG_041830.1:g.88074T>C
NC_000013.11:g.95760212T>C
NC_000013.10:g.96412466T>C
More... 		07/20/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAJC3
Accession:NM_006260
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPDNYIAYYRRATV
FLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVLKSNPSENEEKEAQSQLIKSDEMQRLRSQ
ALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAFYKISTLYYQLGDHEP
SLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPSIAEYTVRSKERICHCFSKDE
KPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNENDQQIREGLEKAQRLLKQSQKRDYYKILG
VKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLSDPEMRKKFDDGEDPLDAESQQGGGGNPFHR
SWNSWQGFNPFSSGGPFRFKFHFN*

Gene Symbol:DNAJC3
Accession:XM_011521104
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPDNYIAYYRRATV
FLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVVFPVPSLLGLQRSLLDDLYLLFWFFLMKK
LKSNPSENEEKEAQSQLIKSDEMQRLRSQALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDL
KAASKLKNDNTEAFYKISTLYYQLGDHEPSLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKY
ESVMKTEPSIAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNE
NDQQIREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLSD
PEMRKKFDDGEDPLDAESQQGGGGNPFHRSWNSWQGFNPFSSGGPFRFKFHFN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002729287 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene DNAJC3 CLINVAR
OMIM 601184 CLINVAR