RGD:401893438 Rat Genome Database

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Variant: RGD:401893438 -  Homo sapiens

RGD ID: 401893438
ClinVar ID: CV2765307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MYMK  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 136,380,623
GRCh38 9 133,515,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001080483.3:c.506T>G
NC_000009.12:g.133515501A>C
NC_000009.11:g.136380623A>C
NM_001080483.2:c.506T>G
More... 		08/08/2023 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2765307Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:MYMK
Accession:NM_001080483
Location:EXON
Amino Acid Prediction: F to C (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTLVAKLLLPTLSSLAFLPTVSIAAKRRFHMEAMVYLFTLFFVALHHACNGPGLSVLCFMRHDILEYFSVYGTALSMWV
SLMALADFDEPKRSTFVMFGVLTIAVRIYHDRWGYGVYSGPIGTAILIIAAKWLQKMKEKKGLYPDKSVYTQQIGPGLCF
GALALMLRCFFEDWDYTYVHSFYHCALAMSFVLLLPKVNKKAGSPGTPAKLDCSTLCCACV*
.


Database
Acc Id
Source(s)
ClinVar RCV003356250 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MYMK CLINVAR
OMIM 615345 CLINVAR