RGD:8564163 Rat Genome Database

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Variant: RGD:8564163 -  Homo sapiens

RGD ID: 8564163
RS ID: rs1553703612
ClinVar ID: CV29310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 69,998,200
GRCh38 3 69,949,049
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_776:g.214568A>C
NG_011631.1:g.214568A>C
NC_000003.12:g.69949049A>C
NC_000003.11:g.69998200A>C
More... 		01/30/2012 splice acceptor variant pathogenic neonatal/infancy 1-9 / 1 000 000|1-9 / 100 000 WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7874167  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015341 CLINVAR
dbSNP (RS) rs1553703612 CLINVAR
MedGen C1860339 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR
  193510 CLINVAR
OMIM Allele 156845.0002 CLINVAR