RGD:10397223 Rat Genome Database

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Variant: RGD:10397223 -  Homo sapiens

RGD ID: 10397223
RS ID: rs1555854856
ClinVar ID: CV203741
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: KCNQ2  
Reference Nucleotide: -
Variant Nucleotide: GACAGGCA
Position
Assembly Chr Position
GRCh37 20 62,046,496
GRCh38 20 63,415,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009004.2:g.62497_62498insTGCCTGTC
NM_172107.2:c.1302-18_1302-17insTGCCTGTC
NM_004518.6:c.1218-18_1218-17insCTGTCTGC
NM_172106.3:c.1248-18_1248-17insCTGTCTGC
More... 		03/03/2015 intron variant benign|no classifications from unflagged records AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNQ2
Accession:NM_172108
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_004518
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027844
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027842
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_001382235
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027845
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440144
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_011528811
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_047440145
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172109
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027841
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172106
Location:INTRON

Gene Symbol:KCNQ2
Accession:NM_172107
Location:INTRON

Gene Symbol:KCNQ2
Accession:XM_017027843
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000187828 CLINVAR
  RCV001668348 CLINVAR
dbSNP (RS) rs1555854856 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ2 CLINVAR
OMIM 602235 CLINVAR