RGD:11613584 Rat Genome Database

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Variant: RGD:11613584 -  Homo sapiens

RGD ID: 11613584
RS ID: rs534173407
ClinVar ID: CV336263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 83,948,956
GRCh38 16 83,915,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009079.1:g.21227C>T
NC_000016.10:g.83915351C>T
NC_000016.9:g.83948956C>T
NP_036345.2:p.Cys448=
More... 		12/08/2021 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance childhood <1 / 1 000 000 Malonic acidemia; Malonic aciduria; MCD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLYCD
Accession:NM_012213
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 448
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGFGPGLTARRLLPLRLPPRPPGPRLASGQAAGALERAMDELLRRAVPPTPAYELREKTPAPAEGQCADFVSFYGGLAE
TAQRAELLGRLARGFGVDHGQVAEQSAGVLHLRQQQREAAVLLQAEDRLRYALVPRYRGLFHHISKLDGGVRFLVQLRAD
LLEAQALKLVEGPDVREMNGVLKGMLSEWFSSGFLNLERVTWHSPCEVLQKISEAEAVHPVKNWMDMKRRVGPYRRCYFF
SHCSTPGEPLVVLHVALTGDISSNIQAIVKEHPPSETEEKNKITAAIFYSISLTQQGLQGVELGTFLIKRVVKELQREFP
HLGVFSSLSPIPGFTKWLLGLLNSQTKEHGRNELFTDSECKEISEITGGPINETLKLLLSSSEWVQSEKLVRALQTPLMR
LCAWYLYGEKHRGYALNPVANFHLQNGAVLWRINWMADVSLRGITGSCGLMANYRYFLEETGPNSTSYLGSKIIKASEQV
LSLVAQFQKNSKL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000269511 CLINVAR
dbSNP (RS) rs534173407 CLINVAR
MedGen C0342793 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR