RGD:405176397 Rat Genome Database

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Variant: RGD:405176397 -  Homo sapiens

RGD ID: 405176397
ClinVar ID: CV3101158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 69,988,273
GRCh38 3 69,939,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_937802.1:p.Asn203Asp
NP_937821.2:p.Asn40Asp
NP_000239.1:p.Asn96Asp
NP_000239.1:p.Asn96Asp
More... 		02/05/2023 missense 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003803545 CLINVAR
MedGen C0391816 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 103500 CLINVAR
  156845 CLINVAR
  193510 CLINVAR
  614456 CLINVAR