RGD:11559930 Rat Genome Database

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Variant: RGD:11559930 -  Homo sapiens

RGD ID: 11559930
RS ID: rs886039385
ClinVar ID: CV259855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 150,648,008
GRCh38 7 150,950,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288t1:c.2145+1G>A
LRG_288:g.32007G>A
NG_008916.1:g.32007G>A
NC_000007.14:g.150950920C>T
More... 		05/14/2021 splice donor variant pathogenic|likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNH2
Accession:NM_172057
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172056
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406755
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_000238
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406757
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420349
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:INTRON

Gene Symbol:KCNH2
Accession:NR_176254
Location:INTRON;NON-CODING

Gene Symbol:KCNH2
Accession:NR_176255
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10973849   PMID:16199547   PMID:19862833   PMID:28492532   PMID:32383558  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000255301 CLINVAR
  RCV000477020 CLINVAR
  RCV002429194 CLINVAR
dbSNP (RS) rs886039385 CLINVAR
MedGen C0023976 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
SNOMED CT 9651007 CLINVAR