RGD:11597855 Rat Genome Database

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Variant: RGD:11597855 -  Homo sapiens

RGD ID: 11597855
RS ID: rs567516489
ClinVar ID: CV302568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 23,214,242
GRCh38 7 23,174,623
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.23174623G>A
NC_000007.13:g.23214242G>A
NM_001031710.3:c.*325G>A
NM_018846.5:c.*325G>A
More...
06/14/2016 3 prime utr variant uncertain significance Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KLHL7
Accession:NM_001031710
Location:3UTRS;EXON

Gene Symbol:KLHL7
Accession:NM_018846
Location:3UTRS;EXON

Gene Symbol:KLHL7
Accession:NR_033328
Location:EXON;NON-CODING

Gene Symbol:KLHL7
Accession:NM_001172428
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_006715757
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_017012440
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_047420615
Location:INTRON

Gene Symbol:KLHL7
Accession:NR_033329
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000398641 CLINVAR
dbSNP (RS) rs567516489 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene KLHL7 CLINVAR
OMIM 268000 CLINVAR
  611119 CLINVAR
SNOMED CT 28835009 CLINVAR