RGD:11588764 Rat Genome Database

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Variant: RGD:11588764 -  Homo sapiens

RGD ID: 11588764
RS ID: rs144757214
ClinVar ID: CV292693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 70,005,696
GRCh38 3 69,956,545
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_000248.3:c.710+15G>A
LRG_776t1:c.710+15G>A
LRG_776:g.222064G>A
NG_011631.1:g.222064G>A
More... 		03/15/2022 intron variant likely benign|uncertain significance 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; Melanoma, cutaneous malignant, susceptibility to, 8; Tietz albinism-deafness syndrome; Waardenburg syndrome type 2A; WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000305388 CLINVAR
  RCV000353241 CLINVAR
  RCV002268038 CLINVAR
  RCV002520180 CLINVAR
dbSNP (RS) rs144757214 CLINVAR
MedGen C0391816 CLINVAR
  C1860339 CLINVAR
  CN169374 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR
  614456 CLINVAR