RGD:405204333 Rat Genome Database

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Variant: RGD:405204333 -  Homo sapiens

RGD ID: 405204333
ClinVar ID: CV2912438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RFWD3  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 74,657,982
GRCh38 16 74,624,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370537.1:c.1348-13T>A
NM_001370539.1:c.1348-13T>A
NM_001370540.1:c.1348-13T>A
NM_001370542.1:c.1348-13T>A
More... 		08/01/2023 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RFWD3
Accession:NM_001370534
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370535
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_005256022
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_006721228
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_011523191
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_047434324
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370540
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370543
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_017023391
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370542
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_018124
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370539
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370536
Location:INTRON

Gene Symbol:RFWD3
Accession:NM_001370537
Location:INTRON

Gene Symbol:RFWD3
Accession:XM_047434323
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003566305 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RFWD3 CLINVAR
OMIM 614151 CLINVAR