RGD:12837576 Rat Genome Database

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Variant: RGD:12837576 -  Homo sapiens

RGD ID: 12837576
RS ID: rs370660849
ClinVar ID: CV367267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 182,740,351
GRCh38 3 183,022,563
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008100.1:g.82015T>A
NC_000003.12:g.183022563A>T
NC_000003.11:g.182740351A>T
NM_020166.3:c.1732-9T>A
More...
09/25/2018 intron variant likely benign 3 Alpha methylcrotonylglycinuria 1; AllHighlyPenetrant; MCC 1 deficiency; MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC1
Accession:NM_020166
Location:INTRON

Gene Symbol:MCCC1
Accession:NM_001293273
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_011512992
Location:INTRON

Gene Symbol:MCCC1
Accession:NM_001363880
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448586
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448588
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448589
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448587
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448591
Location:INTRON

Gene Symbol:MCCC1
Accession:XM_047448590
Location:INTRON

Gene Symbol:MCCC1
Accession:NR_120639
Location:INTRON;NON-CODING

Gene Symbol:MCCC1
Accession:NR_120640
Location:INTRON;NON-CODING

Gene Symbol:MCCC1
Accession:XR_007095707
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425410 CLINVAR
  RCV002059736 CLINVAR
dbSNP (RS) rs370660849 CLINVAR
MedGen C0268600 CLINVAR
  CN169374 CLINVAR
NCBI Gene MCCC1 CLINVAR
OMIM 210200 CLINVAR
  609010 CLINVAR