RGD:150471237 Rat Genome Database

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Variant: RGD:150471237 -  Homo sapiens

RGD ID: 150471237
RS ID: rs72950039
ClinVar ID: CV1280933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 69,812,903
GRCh38 3 69,763,752
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184967.2:c.-53+60C>T
NM_001354607.2:c.-77+24051C>T
NM_001354608.2:c.-92+24051C>T
NM_001354604.2:c.104+24051C>T
More... 		06/21/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001354608
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001184968
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_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001713146 CLINVAR
dbSNP (RS) rs72950039 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR