RGD:11587582 Rat Genome Database

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Variant: RGD:11587582 -  Homo sapiens

RGD ID: 11587582
RS ID: rs77588960
ClinVar ID: CV296031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107988030  MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 69,985,838
GRCh38 3 69,936,687
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
NM_001184967.2:c.199-1135G>A
NM_001354608.2:c.199-1135G>A
NM_001354607.2:c.304-1135G>A
NM_198177.3:c.307-1135G>A
More... 		10/19/2017 5 prime utr variant benign|likely benign neonatal <1 / 1 000 000 Albinism-deafness of Tietz; AllHighlyPenetrant; Cutaneous malignant melanoma 8; Hypopigmentation/deafness of Tietz; MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO; 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_198158
Location:5UTRS;EXON

Gene Symbol:MITF
Accession:NM_000248
Location:5UTRS;EXON

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

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

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000296086 CLINVAR
  RCV000385803 CLINVAR
  RCV000611828 CLINVAR
  RCV003316495 CLINVAR
dbSNP (RS) rs77588960 CLINVAR
MedGen C0391816 CLINVAR
  C1860339 CLINVAR
  C3152204 CLINVAR
  CN169374 CLINVAR
NCBI Gene 107988030 CLINVAR
  MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR
  614456 CLINVAR