RGD:12846608 Rat Genome Database

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Variant: RGD:12846608 -  Homo sapiens

RGD ID: 12846608
RS ID: rs1057523343
ClinVar ID: CV369055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 150,652,604
GRCh38 7 150,955,516
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_288:g.27411A>G
NG_008916.1:g.27411A>G
NC_000007.14:g.150955516T>C
NC_000007.13:g.150652604T>C
More... 		09/07/2016 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNH2
Accession:NM_172057
Location:5UTRS;EXON

Gene Symbol:KCNH2
Accession:NM_001204798
Location:5UTRS;EXON

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

Gene Symbol:KCNH2
Accession:NM_000238
Location:INTRON

Gene Symbol:KCNH2
Accession:NM_172056
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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000441973 CLINVAR
dbSNP (RS) rs1057523343 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNH2 CLINVAR
OMIM 152427 CLINVAR