RGD:8578763 Rat Genome Database

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Variant: RGD:8578763 -  Homo sapiens

RGD ID: 8578763
ClinVar ID: CV113151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 69,872,120
GRCh38 3 69,822,969
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011631.1:g.88488G>A
NC_000003.12:g.69822969G>A
NC_000003.11:g.69872120G>A
NM_001184967.1:c.-52-56165G>A
 intron|intron variant uncertain significance Lung cancer, somatic

Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001184967
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Variant Samples