RGD:11593361 Rat Genome Database

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Variant: RGD:11593361 -  Homo sapiens

RGD ID: 11593361
RS ID: rs80212793
ClinVar ID: CV295997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 70,015,890
GRCh38 3 69,966,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_776t1:c.*1491A>G
LRG_776:g.232258A>G
NG_011631.1:g.232258A>G
NC_000003.12:g.69966739A>G
More... 		01/12/2018 3 prime utr variant benign|likely benign neonatal <1 / 1 000 000 Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_198159
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_198177
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354607
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001184967
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_000248
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354608
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_198158
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354606
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354604
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_006722
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354605
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_198178
Location:3UTRS;EXON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348025 CLINVAR
  RCV000391881 CLINVAR
dbSNP (RS) rs80212793 CLINVAR
MedGen C0391816 CLINVAR
  C1860339 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR