rs779785692 Rat Genome Database

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Variant: rs779785692 -  Homo sapiens

RGD ID: 15199442
RS ID: rs779785692
ClinVar ID: CV773713
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMELX  ARHGAP6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 11,317,093
GRCh38 X 11,298,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_872622.1:p.Val174=
NP_001133.1:p.Val190=
NP_872621.1:p.Val204=
NM_001287242.2:c.49-44266C>G
More... 		02/10/2020 intron variant benign|likely benign AMELX-related condition; none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV773713Humanamelogenesis imperfecta type 1E  IAGP 8554872ClinVar Annotator: match by term: AMELX-related conditionClinVarPMID:28492532
Gene Symbol:AMELX
Accession:NM_182680
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_013427
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_006125
Location:INTRON

Gene Symbol:AMELX
Accession:XM_017029404
Location:INTRON

Gene Symbol:AMELX
Accession:NM_182681
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_001287242
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NM_013423
Location:INTRON

Gene Symbol:AMELX
Accession:NM_001142
Location:INTRON

Gene Symbol:ARHGAP6
Accession:NR_109776
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000935106 CLINVAR
  RCV003903111 CLINVAR
dbSNP (RS) rs779785692 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AMELX CLINVAR
  ARHGAP6 CLINVAR
OMIM 300118 CLINVAR
  300391 CLINVAR