RGD:21073752 Rat Genome Database

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Variant: RGD:21073752 -  Homo sapiens

RGD ID: 21073752
RS ID: rs62621209
ClinVar ID: CV792506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7A  PGAM4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 77,224,879
GRCh38 X 77,969,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.77969382C>T
NC_000023.10:g.77224879C>T
NP_001025062.1:p.Arg86His
NM_001282224.2:c.-21-2239C>T
More... 		05/28/2019 intron variant benign 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_001282224
Location:5UTRS;INTRON

Gene Symbol:ATP7A
Accession:NM_000052
Location:5UTRS;INTRON

Gene Symbol:PGAM4
Accession:NM_001029891
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAYKLVLIRHGESTWNLENRFSCWYDADLSPAGHEEAKRGGQALRDAGYEFDICLTSVQKRVIRTLWTVLDAIDQMWLP
VVRTWHLNERHYGGLTGLNKAETAAKHGEAQVKIWRRSYDVPPPPMEPDHPFYSNISKDRRYADLTEDQLPSYESPKDTI
ARALPFWNEEIVPQIKEGKRVLIAAHGNSLQGIAKHVEGLSEEAIMELNLPTGIPIVYELDKNLKPIKPMQFLGDEETVC
KAIEAVAAQGKAKK*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990878 CLINVAR
dbSNP (RS) rs62621209 CLINVAR
MedGen C0022716 CLINVAR
NCBI Gene ATP7A CLINVAR
  PGAM4 CLINVAR
OMIM 300011 CLINVAR
  300567 CLINVAR
  309400 CLINVAR
SNOMED CT 59178007 CLINVAR