RGD:156193696 Rat Genome Database

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Variant: RGD:156193696 -  Homo sapiens

RGD ID: 156193696
ClinVar ID: CV2351813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDLIM5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 95,497,074
GRCh38 4 94,575,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256425.2:c.-266+2530C>A
NM_001256428.2:c.233C>A
NM_001011516.3:c.291+2530C>A
NM_001011513.4:c.292-20C>A
More... 		06/29/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDLIM5
Accession:NM_001256425
Location:5UTRS;INTRON

Gene Symbol:PDLIM5
Accession:NM_006457
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNYSVSLVGPAPWGFRLQGGKDFNMPLTISSLKDGGKAAQANVRIGDVVLSIDGINAQGMTHLEAQNKIKGCTGSLNMT
LQRASAAPKPEPVPVQKGEPKEVVKPVPITSPAVSKVTSTNNMAYNKAPRPFGSVSSPKVTSIPSPSSAFTPAHATTSSH
ASPSPVAAVTPPLFAASGLHANANLSADQSPSALSAGKTEVNVPRQPTVTSVCSETSQELAEGQRRGSQGDSKQQNGPPR
KHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRSFRILAQITGTEHLKESEADNTKKANNSQEPSPQLASSV
ASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPSWQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSD
QDTLVQRAEHIPAGKRTPMCAHCNQVIRGPFLVALGKSWHPEEFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECG
RCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDGEPYCETDYYALFGTICHGCEFPIEAGDMFLEALGYTWH
DTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF*

Gene Symbol:PDLIM5
Accession:NM_001256428
Location:EXON
Amino Acid Prediction: A to E (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYNKAPRPFGSVSSPKVTSIPSPSSAFTPAHATTSSHASPSPVAAVTPPLFAASGLHANANLSADQSPSALSAGKTEVN
VPRQPTVTSVCSETSQELAEGQRRGSQGDSKQQNGPPRKHIVERYTEFYHVPTHSDASKKRLIEDTEDWRPRTGTTQSRS
FRILAQITGTEHLKESEADNTKKANNSQEPSPQLASSVASTRSMPESLDSPTSGRPGVTSLTAAAAFKPVGSTGVIKSPS
WQRPNQGVPSTGRISNSATYSGSVAPANSALGQTQPSDQDTLVQRAEHIPAGKRTPMCAHCNQVIRGPFLVALGKSWHPE
EFNCAHCKNTMAYIGFVEEKGALYCELCYEKFFAPECGRCQRKILGEVISALKQTWHVSCFVCVACGKPIRNNVFHLEDG
EPYCETDYYALFGTICHGCEFPIEAGDMFLEALGYTWHDTCFVCSVCCESLEGQTFFSKKDKPLCKKHAHSVNF*

Gene Symbol:PDLIM5
Accession:NM_001011513
Location:INTRON

Gene Symbol:PDLIM5
Accession:NM_001011515
Location:INTRON

Gene Symbol:PDLIM5
Accession:NM_001011516
Location:INTRON

Gene Symbol:PDLIM5
Accession:NM_001256426
Location:INTRON

Gene Symbol:PDLIM5
Accession:NM_001256427
Location:INTRON

Gene Symbol:PDLIM5
Accession:NM_001256429
Location:INTRON

Gene Symbol:PDLIM5
Accession:NR_046186
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002957124 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PDLIM5 CLINVAR
OMIM 605904 CLINVAR