RGD:11597592 Rat Genome Database

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Variant: RGD:11597592 -  Homo sapiens

RGD ID: 11597592
RS ID: rs151267430
ClinVar ID: CV290221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDCD10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 167,402,161
GRCh38 3 167,684,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008158.1:g.55491G>A
NC_000003.12:g.167684373C>T
NC_000003.11:g.167402161C>T
NP_009148.2:p.Val192Ile
More... 		10/26/2018 missense variant likely benign|uncertain significance all ages 1-5 / 10 000 CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; Cavernous Hemangioma of Brain; CEREBRAL CAPILLARY MALFORMATIONS; Cerebral cavernous hemangioma (type); CEREBRAL CAVERNOUS MALFORMATIONS; Cerebral cavernous malformations 3
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDCD10
Accession:XM_005247087
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_017005644
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:NM_145859
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:NM_145860
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_011512368
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_047447375
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_011512369
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_005247086
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_047447374
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:NM_007217
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_005247088
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*

Gene Symbol:PDCD10
Accession:XM_006713485
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL
LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL
EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFISANRLIHQTNLILQTFKTVA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000396088 CLINVAR
  RCV001406380 CLINVAR
  RCV003957779 CLINVAR
dbSNP (RS) rs151267430 CLINVAR
MedGen C1864040 CLINVAR
  C2919945 CLINVAR
NCBI Gene PDCD10 CLINVAR
OMIM 116860 CLINVAR
  603285 CLINVAR
  609118 CLINVAR