RGD:151760366 Rat Genome Database

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Variant: RGD:151760366 -  Homo sapiens

RGD ID: 151760366
RS ID: rs2148395507
ClinVar ID: CV1380000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  LOC124905226  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,001,708
GRCh38 X 153,736,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1017t1:c.1224G>A
NM_000033.4:c.1224G>A
LRG_1017:g.16387G>A
NG_009022.2:g.16387G>A
More... 		01/20/2024 synonymous variant 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:7581394   PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532   PMID:30069915  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001970107 CLINVAR
dbSNP (RS) rs2148395507 CLINVAR
MedGen C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR