RGD:401921146 Rat Genome Database

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Variant: RGD:401921146 -  Homo sapiens

RGD ID: 401921146
ClinVar ID: CV2802249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 70,005,687
GRCh38 3 69,956,536
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354607.2:c.962+6T>C
NM_198177.3:c.965+6T>C
LRG_776:g.222055T>C
NG_011631.1:g.222055T>C
More... 		11/11/2022 intron variant uncertain significance

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

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003402832 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR