RGD:11600159 Rat Genome Database

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Variant: RGD:11600159 -  Homo sapiens

RGD ID: 11600159
RS ID: rs2433149
ClinVar ID: CV305767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  MCPH1-AS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 6,500,751
GRCh38 8 6,643,230
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.241639C>G
NC_000008.11:g.6643230C>G
NC_000008.10:g.6500751C>G
NM_024596.3:c.*181C>G
More... 		06/26/2018 3 prime utr variant benign|likely benign none provided; PCC SYNDROME; PREMATURE CHROMOSOME CONDENSATION SYNDROME; Premature chromosome condensation with microcephaly and mental retardation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCPH1
Accession:XM_047422234
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:NM_001363980
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:NM_001322042
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:NM_024596
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:XM_017013833
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013829
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1-AS1
Accession:NR_125386
Location:INTRON;NON-CODING

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000271067 CLINVAR
  RCV001672707 CLINVAR
dbSNP (RS) rs2433149 CLINVAR
MedGen C1855081 CLINVAR
  C3661900 CLINVAR
NCBI Gene MCPH1 CLINVAR
  MCPH1-AS1 CLINVAR
OMIM 251200 CLINVAR
  606858 CLINVAR
  607117 CLINVAR