RGD:156064763 Rat Genome Database

Variant: RGD:156064763 - Homo sapiens

RGD ID:

156064763

ClinVar ID:

CV1888731

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDCD10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	167,413,467
GRCh38	3	167,695,679

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_651t1:c.312C>T NM_007217.4:c.312C>T NM_145859.2:c.312C>T NM_145860.2:c.312C>T More...	09/01/2022	synonymous variant	likely benign	Cerebral cavernous malformations 3

Disease Annotations Click to see Annotation Detail View

cerebral cavernous malformation 3 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PDCD10
Accession:	NM_145859
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_005247088
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_006713485
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_011512369
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	NM_007217
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_047447375
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_005247086
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_047447374
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	NM_145860
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_005247087
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_011512368
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Gene Symbol:	PDCD10
Accession:	XM_017005644
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRMTMEEMKNEAETTSMVSMPLYAVMYPVFNELERVNLSAAQTLRAAFIKAEKENPGLTQDIIMKILEKKSVEVNFTESL LRMAADDVEEYMIERPEPEFQDLNEKARALKQILSKIPDEINDRVRFLQTIKDIASAIKELLDTVNNVFKKYQYQNRRAL EHQKKEFVKYSKSFSDTLKTYFKDGKAINVFVSANRLIHQTNLILQTFKTVA*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003079344	CLINVAR
MedGen	C1864040	CLINVAR
NCBI Gene	PDCD10	CLINVAR
OMIM	603285	CLINVAR
	609118	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156064763 - Homo sapiens

Imported Disease Annotations - ClinVar