RGD:11543993 Rat Genome Database

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Variant: RGD:11543993 -  Homo sapiens

RGD ID: 11543993
RS ID: rs6861176
ClinVar ID: CV251977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 70,927,923
GRCh38 5 71,632,096
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.49809C>T
NC_000005.10:g.71632096C>T
NC_000005.9:g.70927923C>T
NM_001363147.1:c.625-25C>T
More... 		05/26/2021 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_001363147
Location:INTRON

Gene Symbol:MCCC2
Accession:NM_022132
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000243194 CLINVAR
  RCV001683107 CLINVAR
dbSNP (RS) rs6861176 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 609014 CLINVAR