RGD:28870013 Rat Genome Database

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Variant: RGD:28870013 -  Homo sapiens

RGD ID: 28870013
RS ID: rs548238521
ClinVar ID: CV899959
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCPH1  MCPH1-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 6,500,699
GRCh38 8 6,643,178
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.*129C>T
NM_024596.5:c.*129C>T
NC_000008.10:g.6500699C>T
NM_024596.3:c.*129C>T
More... 		01/12/2018 3 prime utr variant uncertain significance 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:NM_001363980
Location:3UTRS;EXON

Gene Symbol:MCPH1
Accession:XM_047422234
Location:3UTRS;EXON

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

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

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

Gene Symbol:MCPH1
Accession:NM_001322043
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172574
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410917
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001172575
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534757
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013832
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_047422233
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534758
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001363979
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001322045
Location:INTRON

Gene Symbol:MCPH1
Accession:NM_001410916
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_011534756
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MCPH1
Accession:XM_017013829
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 RCV001163354 CLINVAR
dbSNP (RS) rs548238521 CLINVAR
MedGen C1855081 CLINVAR
NCBI Gene MCPH1 CLINVAR
  MCPH1-AS1 CLINVAR
OMIM 251200 CLINVAR
  606858 CLINVAR
  607117 CLINVAR