RGD:11600884 Rat Genome Database

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Variant: RGD:11600884 -  Homo sapiens

RGD ID: 11600884
RS ID: rs7073015
ClinVar ID: CV322540
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNMA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 78,645,067
GRCh38 10 76,885,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_012270.1:g.757511C>T
NC_000010.11:g.76885309G>A
NC_000010.10:g.78645067G>A
NM_001161352.2:c.*1957C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign childhood Generalized epilepsy and paroxysmal dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNMA1
Accession:XM_011539783
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_001322837
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_002247
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_011539778
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_001161352
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_006717826
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_017016209
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_047425200
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_001271519
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_011539782
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_017016214
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_047425197
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_001161353
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_047425195
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_011539774
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_011539777
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:NM_001322836
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_024447986
Location:3UTRS;EXON

Gene Symbol:KCNMA1
Accession:XM_005269789
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322838
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016210
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425199
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001410940
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271518
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016213
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425201
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269781
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447984
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447988
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269776
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447989
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425196
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016222
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001014797
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539775
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539781
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322839
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016208
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447985
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016223
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271522
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539785
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322832
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269778
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539784
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322835
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271520
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269787
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539773
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447990
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322830
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269792
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539780
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322829
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016219
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447987
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271521
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016207
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016211
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016217
Location:INTRON

Gene Symbol:KCNMA1
Accession:XR_007061964
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000277785 CLINVAR
dbSNP (RS) rs7073015 CLINVAR
MedGen C5574945 CLINVAR
NCBI Gene KCNMA1 CLINVAR
OMIM 600150 CLINVAR
  609446 CLINVAR