RGD:11549724 Rat Genome Database

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Variant: RGD:11549724 -  Homo sapiens

RGD ID: 11549724
RS ID: rs886038272
ClinVar ID: CV251276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 70,005,599
GRCh38 3 69,956,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_776t1:c.635-7C>A
LRG_776:g.221967C>A
NG_011631.1:g.221967C>A
NC_000003.12:g.69956448C>A
More... 		intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000250782 CLINVAR
dbSNP (RS) rs886038272 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR