RGD:151713496 Rat Genome Database

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Variant: RGD:151713496 -  Homo sapiens

RGD ID: 151713496
RS ID: rs797044626
ClinVar ID: CV1334544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  LOC127898491  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,008,941
GRCh38 X 153,743,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000033.4:c.1992-2A>C
LRG_1017:g.23620A>C
NG_009022.2:g.23620A>C
NC_000023.11:g.153743487A>C
More... 		02/02/2022 splice acceptor variant uncertain significance 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:XM_047441916
Location:INTRON

Gene Symbol:ABCD1
Accession:NM_000033
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001842262 CLINVAR
dbSNP (RS) rs797044626 CLINVAR
MedGen C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR