RGD:11630393 Rat Genome Database

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Variant: RGD:11630393 -  Homo sapiens

RGD ID: 11630393
RS ID: rs1057515931
ClinVar ID: CV352296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 49,857,380
GRCh38 X 50,092,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127899.4:c.*504G>C
NG_007159.3:g.175108G>C
NC_000023.11:g.50092723G>C
NC_000023.10:g.49857380G>C
More... 		06/14/2016 3 prime utr variant uncertain significance 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_000084
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:XM_047441807
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:XM_017029258
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:NM_001127899
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:XM_047441808
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:XM_017029257
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:NM_001127898
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:NM_001282163
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:NM_001272102
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000347486 CLINVAR
dbSNP (RS) rs1057515931 CLINVAR
MedGen C1848336 CLINVAR
NCBI Gene CLCN5 CLINVAR
OMIM 300008 CLINVAR
  300009 CLINVAR