RGD:11091467 Rat Genome Database

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Variant: RGD:11091467 -  Homo sapiens

RGD ID: 11091467
RS ID: rs373660547
ClinVar ID: CV229140
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 69,813,078
GRCh38 3 69,763,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_776:g.29446G>A
NG_011631.1:g.29446G>A
NC_000003.12:g.69763927G>A
NC_000003.11:g.69813078G>A
More... 		09/03/2022 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_001354607
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001184967
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_001354608
Location:5UTRS;INTRON

Gene Symbol:MITF
Accession:NM_006722
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHLENTSVVFPRAIFSLCEKETRKLTLYLFSRSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ
AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP
NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI
LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNI
NDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI
PSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD
DTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_198158
Location:INTRON

Gene Symbol:MITF
Accession:NM_198178
Location:INTRON

Gene Symbol:MITF
Accession:NM_198177
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354604
Location:INTRON

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Gene Symbol:MITF
Accession:NM_000248
Location:INTRON

Gene Symbol:MITF
Accession:NM_198159
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354605
Location:INTRON

Gene Symbol:MITF
Accession:NM_001354606
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000217338 CLINVAR
  RCV002258832 CLINVAR
  RCV003919881 CLINVAR
dbSNP (RS) rs373660547 CLINVAR
MedGen C0027672 CLINVAR
  CN169374 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR
SNOMED CT 699346009 CLINVAR