RGD:10408545 Rat Genome Database

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Variant: RGD:10408545 -  Homo sapiens

RGD ID: 10408545
RS ID: rs797045363
ClinVar ID: CV209260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 77,275,895
GRCh38 X 78,020,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013224.2:g.114702G>C
NC_000023.11:g.78020398G>C
NC_000023.10:g.77275895G>C
NM_000052.4:c.2781G>C
More... 		02/08/2013 intron variant|missense variant likely pathogenic neonatal the incidence of menkes disease and its variants is estimated at one in 100,000 births. Copper transport disease; Kinky hair disease; Menkes Disease
Disease Annotations     Click to see Annotation Detail View
Menkes disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP7A
Accession:NM_000052
Location:INTRON

Gene Symbol:ATP7A
Accession:NM_001282224
Location:INTRON

Gene Symbol:ATP7A
Accession:NR_104109
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194847 CLINVAR
dbSNP (RS) rs797045363 CLINVAR
MedGen C0022716 CLINVAR
NCBI Gene ATP7A CLINVAR
OMIM 300011 CLINVAR
  309400 CLINVAR
SNOMED CT 59178007 CLINVAR