RGD:13436050 Rat Genome Database

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Variant: RGD:13436050 -  Homo sapiens

RGD ID: 13436050
RS ID: rs886039043
ClinVar ID: CV433651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 150,649,512
GRCh38 7 150,952,424
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288:g.30503G>C
NG_008916.1:g.30503G>C
NC_000007.14:g.150952424C>G
NC_000007.13:g.150649512C>G
More... 		07/21/2023 splice donor variant pathogenic|likely pathogenic AllHighlyPenetrant
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_000238
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172057
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172056
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420349
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406755
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406757
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
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:10753933   PMID:10973849   PMID:16199547   PMID:19716085   PMID:19862833   PMID:20301308   PMID:21777565   PMID:25741868   PMID:26496715   PMID:26669661   PMID:27920829   PMID:28492532  
PMID:32893267  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000506480 CLINVAR
  RCV002470890 CLINVAR
  RCV003343878 CLINVAR
  RCV003532150 CLINVAR
dbSNP (RS) rs886039043 CLINVAR
MedGen C0023976 CLINVAR
  C3150943 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
  613688 CLINVAR
SNOMED CT 9651007 CLINVAR