RGD:21069094 Rat Genome Database

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Variant: RGD:21069094 -  Homo sapiens

RGD ID: 21069094
RS ID: rs750965429
ClinVar ID: CV795716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 70,945,928
GRCh38 5 71,650,101
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363147.1:c.1292G>A
NC_000005.9:g.70945928G>A
NM_022132.5:c.1406G>A
NG_008882.1:g.67814G>A
More...
12/08/2021 missense variant uncertain significance 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_022132
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLF
LQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNAHISVMGGEQAAN
VLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGI
FRM*

Gene Symbol:MCCC2
Accession:NM_001363147
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTG
FARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKIT
LIIGGSYGAGNYGMCGRAYSPRFLYIWPNAHISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGN
PYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM*

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 References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000998394 CLINVAR
  RCV001580558 CLINVAR
dbSNP (RS) rs750965429 CLINVAR
MedGen C1859499 CLINVAR
  C3661900 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR