RGD:402509235 Rat Genome Database

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Variant: RGD:402509235 -  Homo sapiens

RGD ID: 402509235
ClinVar ID: CV3034156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MBD4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 129,152,902
GRCh38 3 129,434,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276270.2:c.1258+3A>G
NM_001276271.2:c.1276+3A>G
NM_001276272.2:c.1276+3A>G
NM_003925.3:c.1276+3A>G
More... 		12/18/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MBD4
Accession:NM_001276270
Location:INTRON

Gene Symbol:MBD4
Accession:NM_001276272
Location:INTRON

Gene Symbol:MBD4
Accession:XM_047449153
Location:INTRON

Gene Symbol:MBD4
Accession:NM_001276271
Location:INTRON

Gene Symbol:MBD4
Accession:NM_001276273
Location:INTRON

Gene Symbol:MBD4
Accession:XM_024453810
Location:INTRON

Gene Symbol:MBD4
Accession:NM_003925
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003715449 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MBD4 CLINVAR
OMIM 603574 CLINVAR