RGD:13500765 Rat Genome Database

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Variant: RGD:13500765 -  Homo sapiens

RGD ID: 13500765
RS ID: rs1557238665
ClinVar ID: CV471769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 77,298,814
GRCh38 X 78,043,316
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000052.6:c.4006-1G>A
NG_013224.2:g.137620G>A
NC_000023.11:g.78043316G>A
NM_001282224.2:c.3772-1G>A
More... 		10/25/2016 splice acceptor variant likely pathogenic Copper transport disease; Cutis laxa, X-linked; EDS IX; EDS IX (formerly); Ehlers-Danlos syndrome, occipital horn type (formerly); Kinky hair disease; Menkes Disease; NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; Occipital horn syndrome; SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; X-linked distal spinal muscular atrophy type 3
Disease Annotations     Click to see Annotation Detail View
Menkes disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP7A
Accession:NM_001282224
Location:INTRON

Gene Symbol:ATP7A
Accession:NM_000052
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:11241493   PMID:16199547   PMID:20652413   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000538247 CLINVAR
dbSNP (RS) rs1557238665 CLINVAR
MedGen C0022716 CLINVAR
NCBI Gene ATP7A CLINVAR
OMIM 300011 CLINVAR
  300489 CLINVAR
  304150 CLINVAR
  309400 CLINVAR
SNOMED CT 59178007 CLINVAR