RGD:8634913 Rat Genome Database

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Variant: RGD:8634913 -  Homo sapiens

RGD ID: 8634913
ClinVar ID: CV90135
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYF5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 81,110,854
GRCh38 12 80,717,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.10:g.79634985G>A
NM_005593.2:c.12G>A
NC_000012.12:g.80717075G>A
NC_000012.11:g.81110854G>A
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:MYF5
Accession:NM_005593
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDVIDGCQFSPSEYFYDGSCIPSPEGEFGDEFVPRVAAFGAHKAELQGSDEDEHVRAPTGHHQAGHCLMWACKACKRKST
TMDRRKAATMRERRRLKKVNQAFETLKRCTTTNPNQRLPKVEILRNAIRYIESLQELLREQVENYYSLPGQSCSEPTSPT
SNCSDGMPECNSPVWSRKSSTFDSIYCPDVSNVYATDKNSLSSLDCLSNIVDRITSSEQPGLPLQDLASLSPVASTDSQP
ATPGASSSRLIYHVL*
Variant Samples