RGD:405132916 Rat Genome Database

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Variant: RGD:405132916 -  Homo sapiens

RGD ID: 405132916
ClinVar ID: CV2904077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130059554  MLYCD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 83,932,833
GRCh38 16 83,899,228
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012213.3:c.84G>T
NG_193975.1:g.444G>T
NG_009079.1:g.5104G>T
NC_000016.10:g.83899228G>T
More...
07/22/2023 synonymous variant likely benign 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: A to A (synonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGFGPGLTARRLLPLRLPPRPPGPRLASGQAAGALERAMDELLRRAVPPTPAYELREKTPAPAEGQCADFVSFYGGLAE
TAQRAELLGRLARGFGVDHGQVAEQSAGVLHLRQQQREAAVLLQAEDRLRYALVPRYRGLFHHISKLDGGVRFLVQLRAD
LLEAQALKLVEGPDVREMNGVLKGMLSEWFSSGFLNLERVTWHSPCEVLQKISEAEAVHPVKNWMDMKRRVGPYRRCYFF
SHCSTPGEPLVVLHVALTGDISSNIQAIVKEHPPSETEEKNKITAAIFYSISLTQQGLQGVELGTFLIKRVVKELQREFP
HLGVFSSLSPIPGFTKWLLGLLNSQTKEHGRNELFTDSECKEISEITGGPINETLKLLLSSSEWVQSEKLVRALQTPLMR
LCAWYLYGEKHRGYALNPVANFHLQNGAVLWRINWMADVSLRGITGSCGLMANYRYFLEETGPNSTSYLGSKIIKASEQV
LSLVAQFQKNSKL*

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Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003502337 CLINVAR
MedGen C0342793 CLINVAR
NCBI Gene LOC130059554 CLINVAR
  MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR