RGD:11623006 Rat Genome Database

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Variant: RGD:11623006 -  Homo sapiens

RGD ID: 11623006
RS ID: rs376324546
ClinVar ID: CV344137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 83,948,772
GRCh38 16 83,915,167
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.21043C>T
NC_000016.10:g.83915167C>T
NC_000016.9:g.83948772C>T
NP_036345.2:p.Ser387Leu
More... 		01/21/2022 missense variant 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: S to L (nonsynonymous)
Amino Acid Position: 387
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGFGPGLTARRLLPLRLPPRPPGPRLASGQAAGALERAMDELLRRAVPPTPAYELREKTPAPAEGQCADFVSFYGGLAE
TAQRAELLGRLARGFGVDHGQVAEQSAGVLHLRQQQREAAVLLQAEDRLRYALVPRYRGLFHHISKLDGGVRFLVQLRAD
LLEAQALKLVEGPDVREMNGVLKGMLSEWFSSGFLNLERVTWHSPCEVLQKISEAEAVHPVKNWMDMKRRVGPYRRCYFF
SHCSTPGEPLVVLHVALTGDISSNIQAIVKEHPPSETEEKNKITAAIFYSISLTQQGLQGVELGTFLIKRVVKELQREFP
HLGVFSSLSPIPGFTKWLLGLLNSQTKEHGRNELFTDSECKEISEITGGPINETLKLLLSSSEWVQLEKLVRALQTPLMR
LCAWYLYGEKHRGYALNPVANFHLQNGAVLWRINWMADVSLRGITGSCGLMANYRYFLEETGPNSTSYLGSKIIKASEQV
LSLVAQFQKNSKL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000367393 CLINVAR
dbSNP (RS) rs376324546 CLINVAR
MedGen C0342793 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR