RGD:13446338 Rat Genome Database

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Variant: RGD:13446338 -  Homo sapiens

RGD ID: 13446338
RS ID: rs1554438471
ClinVar ID: CV438375
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 143,039,235
GRCh38 7 143,342,142
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.143342142G>A
NC_000007.13:g.143039235G>A
NM_000083.3:c.1796G>A
NP_000074.3:p.Ser599Asn
More... 		05/31/2017 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CLCN1
Accession:NM_000083
Location:INTRON

Gene Symbol:CLCN1
Accession:NR_046453
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000513588 CLINVAR
dbSNP (RS) rs1554438471 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR