rs375657338 Rat Genome Database

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Variant: rs375657338 -  Homo sapiens

RGD ID: 12838753
RS ID: rs375657338
ClinVar ID: CV375520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLYCD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 83,933,124
GRCh38 16 83,899,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009079.1:g.5395C>G
NC_000016.10:g.83899519C>G
NC_000016.9:g.83933124C>G
NP_036345.2:p.Ala125=
More... 		10/07/2019 synonymous variant benign|likely benign AllHighlyPenetrant; Malonic acidemia; Malonic aciduria; MCD deficiency; MLYCD-related condition
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: 125
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 RCV000427548 CLINVAR
  RCV000876019 CLINVAR
  RCV003902571 CLINVAR
dbSNP (RS) rs375657338 CLINVAR
MedGen C0342793 CLINVAR
  CN169374 CLINVAR
NCBI Gene MLYCD CLINVAR
OMIM 248360 CLINVAR
  606761 CLINVAR
SNOMED CT 124594007 CLINVAR