RGD:28877168 Rat Genome Database

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Variant: RGD:28877168 -  Homo sapiens

RGD ID: 28877168
RS ID: rs995608975
ClinVar ID: CV889613
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107988030  MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 69,985,754
GRCh38 3 69,936,603
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.202122G>A
NG_050802.1:g.2306G>A
NC_000003.12:g.69936603G>A
LRG_776t1:c.-120G>A
More... 		01/13/2018 5 prime utr variant uncertain significance 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_000248
Location:5UTRS;EXON

Gene Symbol:MITF
Accession:NM_198158
Location:5UTRS;EXON

Gene Symbol:MITF
Accession:NM_198178
Location:5UTRS;EXON

Gene Symbol:MITF
Accession:NM_001184968
Location:5UTRS;EXON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
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_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001148262 CLINVAR
  RCV001148263 CLINVAR
dbSNP (RS) rs995608975 CLINVAR
MedGen C0391816 CLINVAR
  C1860339 CLINVAR
NCBI Gene 107988030 CLINVAR
  MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR