RGD:329370234 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: RGD:329370234 -  Homo sapiens

RGD ID: 329370234
ClinVar ID: CV2435519
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANGPT2  MCPH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 6,389,923
GRCh38 8 6,532,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363980.2:c.1935+77150A>G
NM_001322042.2:c.2214+32473A>G
NM_001363979.1:c.2214+32473A>G
NM_001410917.1:c.2214+32473A>G
More... 		02/23/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ANGPT2
Accession:NM_001147
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMREIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSAKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGG
GWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYR
IHLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGPSNLNGMYYPQRQNTNKFNGIKWYYWKGS
GYSLKATTMMIRPADF*

Gene Symbol:ANGPT2
Accession:NM_001386336
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMREIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSAKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGG
GWTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYR
LVV*

Gene Symbol:ANGPT2
Accession:NM_001386337
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMREIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGGG
WTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYRL
VV*

Gene Symbol:ANGPT2
Accession:NM_001118887
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQIVFFTLSCDLVLAAAYNNFRKSMDSIGKKQYQVQHGSCSYTFLLPEMDNCRSSSSPYVSNAVQRDAPLEYDDSVQRL
QVLENIMENNTQWLMKLENYIQDNMKKEMVEIQQNAVQNQTAVMREIGTNLLNQTAEQTRKLTDVEAQVLNQTTRLELQL
LEHSLSTNKLEKQILDQTSEINKLQDKNSFLEKKVLAMEDKHIIQLQSIKEEKDQLQVLVSKQNSIIEELEKKIVTATVN
NSVLQKQQHDLMETVNNLLTMMSTSNSKDPTVAKEEQISFRDCAEVFKSGHTTNGIYTLTFPNSTEEIKAYCDMEAGGGG
WTIIQRREDGSVDFQRTWKEYKVGFGNPSGEYWLGNEFVSQLTNQQRYVLKIHLKDWEGNEAYSLYEHFYLSSEELNYRI
HLKGLTGTAGKISSISQPGNDFSTKDGDNDKCICKCSQMLTGGWWFDACGPSNLNGMYYPQRQNTNKFNGIKWYYWKGSG
YSLKATTMMIRPADF*

Gene Symbol:MCPH1
Accession:XM_017013829
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422234
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322042
Location:INTRON

Gene Symbol:ANGPT2
Accession:NM_001386335
Location:INTRON

Gene Symbol:ANGPT2
Accession:NM_001118888
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_024596
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363980
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013833
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:MCPH1
Accession:NR_136159
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004253161 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ANGPT2 CLINVAR
  MCPH1 CLINVAR
OMIM 601922 CLINVAR
  607117 CLINVAR