RGD:11096168 Rat Genome Database

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Variant: RGD:11096168 -  Homo sapiens

RGD ID: 11096168
RS ID: rs537008263
ClinVar ID: CV228486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 41,304,202
GRCh38 1 40,838,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.40838530T>C
NC_000001.10:g.41304202T>C
NM_004700.4:c.*7T>C
NM_172163.3:c.*7T>C
More... 		05/15/2015 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KCNQ4
Accession:NM_004700
Location:3UTRS;EXON

Gene Symbol:KCNQ4
Accession:NM_172163
Location:3UTRS;EXON

Gene Symbol:KCNQ4
Accession:XM_017002792
Location:3UTRS;EXON

Gene Symbol:KCNQ4
Accession:XM_047434057
Location:INTRON

Gene Symbol:KCNQ4
Accession:XR_007064877
Location:INTRON;NON-CODING

Gene Symbol:KCNQ4
Accession:XR_007064876
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000223238 CLINVAR
dbSNP (RS) rs537008263 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KCNQ4 CLINVAR
OMIM 603537 CLINVAR