RGD:28881895 Rat Genome Database

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Variant: RGD:28881895 -  Homo sapiens

RGD ID: 28881895
RS ID: rs2091774163
ClinVar ID: CV861088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  LOC127898490  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,008,800
GRCh38 X 153,743,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.153008800G>A
NM_000033.3:c.1991G>A
NM_000033.4:c.1991G>A
NG_009022.2:g.23479G>A
More... 		01/03/2018 nonsense pathogenic ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; SIEMERLING-CREUTZFELDT DISEASE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCD1
Accession:XM_047441917
Location:INTRON

Gene Symbol:ABCD1
Accession:NM_000033
Location:INTRON

Gene Symbol:ABCD1
Accession:XM_047441916
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:32207279  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001093621 CLINVAR
dbSNP (RS) rs2091774163 CLINVAR
MedGen C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR