RGD:11583753 Rat Genome Database

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Variant: RGD:11583753 -  Homo sapiens

RGD ID: 11583753
RS ID: rs277975
ClinVar ID: CV300210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 70,953,885
GRCh38 5 71,658,058
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008882.1:g.75771C>T
NC_000005.10:g.71658058C>T
NC_000005.9:g.70953885C>T
NM_001363147.1:c.*1198C>T
More...
06/14/2016 3 prime utr variant benign 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_022132
Location:3UTRS;EXON

Gene Symbol:MCCC2
Accession:NM_001363147
Location:3UTRS;EXON

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268763 CLINVAR
dbSNP (RS) rs277975 CLINVAR
MedGen C1859499 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR