RGD:150432723 Rat Genome Database

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Variant: RGD:150432723 -  Homo sapiens

RGD ID: 150432723
RS ID: rs187584240
ClinVar ID: CV1200770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 70,000,688
GRCh38 3 69,951,537
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.830-293G>C
NM_198177.3:c.833-293G>C
NM_001354605.2:c.878-275G>C
NM_198158.3:c.560-293G>C
More... 		04/24/2019 intron variant likely benign none provided

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

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001581494 CLINVAR
dbSNP (RS) rs187584240 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR