RGD:156077295 Rat Genome Database

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Variant: RGD:156077295 -  Homo sapiens

RGD ID: 156077295
ClinVar ID: CV2170858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 69,990,482
GRCh38 3 69,941,331
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001341533.1:p.Thr254=
NM_001354608.2:c.606G>A
NM_001354607.2:c.711G>A
NM_001354604.2:c.762G>A
More... 		09/21/2022 synonymous variant uncertain significance Albinism-deafness of Tietz; 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
Tietz syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354607
Location:INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003020233 CLINVAR
MedGen C0391816 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR
  614456 CLINVAR