RGD:13817940 Rat Genome Database

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Variant: RGD:13817940 -  Homo sapiens

RGD ID: 13817940
RS ID: rs762124346
ClinVar ID: CV566336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCND2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 120,382,656
GRCh38 7 120,742,602
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034230.1:g.473935G>A
NC_000007.14:g.120742602G>A
NC_000007.13:g.120382656G>A
NP_036413.1:p.Thr489=
More... 		06/15/2018 synonymous variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCND2
Accession:XM_047420346
Location:INTRON

Gene Symbol:KCND2
Accession:NM_012281
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000707354 CLINVAR
dbSNP (RS) rs762124346 CLINVAR
MedGen C0270855 CLINVAR
NCBI Gene KCND2 CLINVAR
OMIM 605410 CLINVAR
SNOMED CT 44423001 CLINVAR