RGD:14711164 Rat Genome Database

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Variant: RGD:14711164 -  Homo sapiens

RGD ID: 14711164
RS ID: rs1603235263
ClinVar ID: CV653695
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  LOC124905226  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,005,545
GRCh38 X 153,740,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009022.2:g.20224G>A
NC_000023.11:g.153740091G>A
NC_000023.10:g.153005545G>A
NM_000033.3:c.1489-1G>A
More... 		10/28/2022 splice acceptor variant pathogenic|likely 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:LOC124905226
Accession:XR_007068350
Location:EXON;NON-CODING

Gene Symbol:ABCD1
Accession:NM_000033
Location:INTRON

Gene Symbol:ABCD1
Accession:XM_047441917
Location:INTRON

Gene Symbol:ABCD1
Accession:XM_047441916
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11748843   PMID:16199547   PMID:28492532   PMID:29950168  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816853 CLINVAR
dbSNP (RS) rs1603235263 CLINVAR
MedGen C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR