RGD:597649086 Rat Genome Database

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Variant: RGD:597649086 -  Homo sapiens

RGD ID: 597649086
ClinVar ID: CV3703376
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: TCP1  
Reference Nucleotide: TTCT
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 6 160,208,800 - 160,208,804
GRCh38 6 159,787,768 - 159,787,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_030752.3:c.252_255del
NC_000006.12:g.159787769_159787772del
NM_001008897.2:c.-214_-211del
NC_000006.11:g.160208801_160208804del
More... 		01/10/2025 5 prime utr variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3703376HumanINTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES  IAGP 8554872ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURESClinVarPMID:39480921


.
PMID:39480921  



Database
Acc Id
Source(s)
ClinVar RCV005000608 CLINVAR
MedGen CN378838 CLINVAR
NCBI Gene TCP1 CLINVAR
OMIM 186980 CLINVAR
  621021 CLINVAR
OMIM Allele 186980.0002 CLINVAR