RGD:152981255 Rat Genome Database

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Variant: RGD:152981255 -  Homo sapiens

RGD ID: 152981255
RS ID: rs148990795
ClinVar ID: CV1676720
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAJC3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 96,375,508
GRCh38 13 95,723,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006251.1:p.Asp69Gly
NG_041830.1:g.51116A>G
NC_000013.11:g.95723254A>G
NM_006260.5:c.206A>G
More... 		05/04/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DNAJC3
Accession:XM_011521104
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPGNYIAYYRRATV
FLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVVFPVPSLLGLQRSLLDDLYLLFWFFLMKK
LKSNPSENEEKEAQSQLIKSDEMQRLRSQALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDL
KAASKLKNDNTEAFYKISTLYYQLGDHELSLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKY
ESVMKTEPSIAEYTVRSKERICHCFSKDEKPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNE
NDQQIREGLEKAQRLLKQSQKRDYYKILGVKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLSD
PEMRKKFDDGEDPLDAESQQGGGGNPFHRSWNSWQGFNPFSSGGPFRFKFHFN*

Gene Symbol:DNAJC3
Accession:NM_006260
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAPGSVTSRLGSVFPFLLVLVDLQYEGAECGVNADVEKHLELGKKLLAAGQLADALSQFHAAVDGDPGNYIAYYRRATV
FLAMGKSKAALPDLTKVIQLKMDFTAARLQRGHLLLKQGKLDEAEDDFKKVLKSNPSENEEKEAQSQLIKSDEMQRLRSQ
ALNAFGSGDYTAAIAFLDKILEVCVWDAELRELRAECFIKEGEPRKAISDLKAASKLKNDNTEAFYKISTLYYQLGDHEL
SLSEVRECLKLDQDHKRCFAHYKQVKKLNKLIESAEELIRDGRYTDATSKYESVMKTEPSIAEYTVRSKERICHCFSKDE
KPVEAIRVCSEVLQMEPDNVNALKDRAEAYLIEEMYDEAIQDYETAQEHNENDQQIREGLEKAQRLLKQSQKRDYYKILG
VKRNAKKQEIIKAYRKLALQWHPDNFQNEEEKKKAEKKFIDIAAAKEVLSDPEMRKKFDDGEDPLDAESQQGGGGNPFHR
SWNSWQGFNPFSSGGPFRFKFHFN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002247784 CLINVAR
dbSNP (RS) rs148990795 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DNAJC3 CLINVAR
OMIM 601184 CLINVAR