RGD:28887404 Rat Genome Database

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Variant: RGD:28887404 -  Homo sapiens

RGD ID: 28887404
RS ID: rs781970249
ClinVar ID: CV903097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 49,861,616
GRCh38 X 50,096,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000084.5:c.*4740C>G
NM_001127898.4:c.*4740C>G
NC_000023.10:g.49861616C>G
NG_007159.3:g.179344C>G
More... 		01/12/2018 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_001282163
Location:3UTRS;EXON

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

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

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

Gene Symbol:CLCN5
Accession:NM_001127898
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_000084
Location:3UTRS;EXON

Gene Symbol:CLCN5
Accession:NM_001272102
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001169329 CLINVAR
dbSNP (RS) rs781970249 CLINVAR
MedGen C1848336 CLINVAR
NCBI Gene CLCN5 CLINVAR
OMIM 300008 CLINVAR
  300009 CLINVAR