RGD:8562738 Rat Genome Database

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Variant: RGD:8562738 -  Homo sapiens

RGD ID: 8562738
RS ID: rs1569540382
ClinVar ID: CV33490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 49,851,528
GRCh38 X 50,086,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001127898.4:c.1557+1G>T
NM_001127899.4:c.1557+1G>T
NM_000084.4:c.1347+1G>T
NC_000023.11:g.50086871G>T
More... 		12/07/2010 splice donor variant pathogenic childhood Nephrolithiasis 2; Nephrolithiasis, hypercalciuria X-linked; Nephrolithiasis, hypercalciuric; NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED; Urolithiasis, hypercalciuric X-linked
Disease Annotations     Click to see Annotation Detail View
Dent Disease 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CLCN5
Accession:NM_001127899
Location:INTRON

Gene Symbol:CLCN5
Accession:NM_001127898
Location:INTRON

Gene Symbol:CLCN5
Accession:NM_000084
Location:INTRON

Gene Symbol:CLCN5
Accession:NM_001272102
Location:INTRON

Gene Symbol:CLCN5
Accession:NM_001282163
Location:INTRON

Gene Symbol:CLCN5
Accession:XM_017029258
Location:INTRON

Gene Symbol:CLCN5
Accession:XM_017029257
Location:INTRON

Gene Symbol:CLCN5
Accession:XM_047441808
Location:INTRON

Gene Symbol:CLCN5
Accession:XM_047441807
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19673950   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012577 CLINVAR
dbSNP (RS) rs1569540382 CLINVAR
MedGen C1848336 CLINVAR
NCBI Gene CLCN5 CLINVAR
OMIM 300008 CLINVAR
  300009 CLINVAR
OMIM Allele 300008.0014 CLINVAR