RGD:10046887 Rat Genome Database

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Variant: RGD:10046887 -  Homo sapiens

RGD ID: 10046887
RS ID: rs786205420
ClinVar ID: CV189224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANK2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 114,214,693
GRCh38 4 113,293,537
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_327t1:c.2474C>T
LRG_327:g.480455C>T
NG_009006.2:g.480455C>T
NC_000004.12:g.113293537C>T
More... 		06/24/2013 missense variant likely pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ANK2
Accession:NM_001386158
Location:EXON

Gene Symbol:ANK2
Accession:NM_020977
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354253
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354225
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354228
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386156
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386152
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354255
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354257
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386161
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354244
Location:EXON

Gene Symbol:ANK2
Accession:NM_001127493
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354272
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354231
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386148
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354243
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354267
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354271
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354282
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386147
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386144
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354235
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354268
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354242
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354279
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386187
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386143
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386154
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386175
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354240
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386151
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354254
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354232
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354237
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354262
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354270
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354280
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354266
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354276
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386149
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354252
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354274
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354239
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354256
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354249
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354277
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386142
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386150
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354269
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354273
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354264
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354236
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386186
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386146
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386153
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354275
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354261
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354265
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386157
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386174
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354246
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354230
Location:EXON

Gene Symbol:ANK2
Accession:NM_001148
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354258
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354278
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386162
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354260
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354281
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354241
Location:EXON

Gene Symbol:ANK2
Accession:NM_001354245
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386160
Location:EXON

Gene Symbol:ANK2
Accession:NM_001386166
Location:INTRON

Gene Symbol:ANK2
Accession:NM_001386167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23861362   PMID:26132555  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000171593 CLINVAR
  RCV000190218 CLINVAR
dbSNP (RS) rs786205420 CLINVAR
MedGen C0023976 CLINVAR
  CN517202 CLINVAR
NCBI Gene ANK2 CLINVAR
OMIM 106410 CLINVAR
SNOMED CT 9651007 CLINVAR