rs1761873980 Rat Genome Database

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Variant: rs1761873980 -  Homo sapiens

RGD ID: 40889564
RS ID: rs1761873980
ClinVar ID: CV972650
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: TFAP2A  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 6 10,398,651
GRCh38 6 10,398,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000006.12:g.10398417del
NM_001042425.3:c.1302del
NP_001035890.1:p.Ter434TrpextTer?
NP_001358995.1:p.Ter440TrpextTer?
More... 		06/04/2020 frameshift variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV972650HumanNeurodevelopmental Disorders  IAGP 8554872ClinVar Annotator: match by term: Neurodevelopmental abnormalityClinVar 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV972650HumanNeurodevelopmental abnormality  IAGP 8554872ClinVar Annotator: match by term: Neurodevelopmental abnormalityClinVar 
Gene Symbol:TFAP2A
Accession:NM_001042425
Location:EXON

Gene Symbol:TFAP2A
Accession:NM_001032280
Location:EXON

Gene Symbol:TFAP2A
Accession:NM_001372066
Location:EXON

.


Database
Acc Id
Source(s)
ClinVar RCV001264662 CLINVAR
dbSNP (RS) rs1761873980 CLINVAR
MedGen C4022737 CLINVAR
NCBI Gene TFAP2A CLINVAR
OMIM 107580 CLINVAR