RGD:11542822 Rat Genome Database

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Variant: RGD:11542822 -  Homo sapiens

RGD ID: 11542822
RS ID: rs113968994
ClinVar ID: CV257883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 77,276,413
GRCh38 X 78,020,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013224.2:g.115220C>A
NC_000023.11:g.78020916C>A
NC_000023.10:g.77276413C>A
NM_001282224.1:c.2548-29C>A
More... 		06/23/2018 intron variant benign AllHighlyPenetrant; none provided

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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000241649 CLINVAR
  RCV001640460 CLINVAR
dbSNP (RS) rs113968994 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATP7A CLINVAR
OMIM 300011 CLINVAR