RGD:11605405 Rat Genome Database

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Variant: RGD:11605405 -  Homo sapiens

RGD ID: 11605405
RS ID: rs41281550
ClinVar ID: CV322544
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNMA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 78,646,630
GRCh38 10 76,886,872
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.755948C>A
NC_000010.11:g.76886872G>T
NC_000010.10:g.78646630G>T
NM_001322838.2:c.3059+419C>A
More... 		07/01/2023 3 prime utr variant likely benign|uncertain significance childhood Generalized epilepsy and paroxysmal dyskinesia; none provided; 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_006717826
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:NM_001271519
Location:3UTRS;EXON

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

Gene Symbol:KCNMA1
Accession:XM_011539783
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:KCNMA1
Accession:XM_011539775
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322835
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016217
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016222
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269778
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322839
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016211
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016207
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447985
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269787
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322838
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269781
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269776
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322830
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539785
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447988
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271521
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539773
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016223
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001410940
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016210
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447984
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425196
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001014797
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447990
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425199
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271518
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269789
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016213
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539781
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016208
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447989
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271520
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_005269792
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539784
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322832
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001271522
Location:INTRON

Gene Symbol:KCNMA1
Accession:NM_001322829
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_047425201
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_011539780
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_017016219
Location:INTRON

Gene Symbol:KCNMA1
Accession:XM_024447987
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000319525 CLINVAR
  RCV003417977 CLINVAR
dbSNP (RS) rs41281550 CLINVAR
MedGen C3661900 CLINVAR
  C5574945 CLINVAR
NCBI Gene KCNMA1 CLINVAR
OMIM 600150 CLINVAR
  609446 CLINVAR