RGD:152034999 Rat Genome Database

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Variant: RGD:152034999 -  Homo sapiens

RGD ID: 152034999
RS ID: rs140013412
ClinVar ID: CV1582856
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANGPT2  MCPH1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 6,357,360
GRCh38 8 6,499,839
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016619.2:g.98248G>C
NC_000008.10:g.6357360G>C
NM_001118888.2:c.*3262C>G
NM_001147.3:c.*3262C>G
More... 		02/05/2022 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ANGPT2
Accession:NM_001147
Location:3UTRS;EXON

Gene Symbol:ANGPT2
Accession:NM_001386337
Location:3UTRS;EXON

Gene Symbol:ANGPT2
Accession:NM_001386336
Location:3UTRS;EXON

Gene Symbol:ANGPT2
Accession:NM_001118887
Location:3UTRS;EXON

Gene Symbol:ANGPT2
Accession:NM_001118888
Location:3UTRS;EXON

Gene Symbol:ANGPT2
Accession:NM_001386335
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_024596
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422234
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363980
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322042
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013829
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013833
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002106840 CLINVAR
dbSNP (RS) rs140013412 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ANGPT2 CLINVAR
  MCPH1 CLINVAR
OMIM 601922 CLINVAR
  607117 CLINVAR