RGD:11348773 Rat Genome Database

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Variant: RGD:11348773 -  Homo sapiens

RGD ID: 11348773
RS ID: rs755499118
ClinVar ID: CV240005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 150,674,918
GRCh38 7 150,977,830
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288t1:c.76+8G>A
LRG_288:g.5097G>A
NG_008916.1:g.5097G>A
NC_000007.14:g.150977830C>T
More... 		01/27/2016 intron variant likely benign
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_001406755
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_011516185
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172056
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012196
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406753
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420349
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_047420348
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406756
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_000238
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172057
Location:INTRON

Gene Symbol:KCNH2
Accession:XM_017012195
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_001406757
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001462980 CLINVAR
dbSNP (RS) rs755499118 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR
SNOMED CT 9651007 CLINVAR