RGD:15143469 Rat Genome Database

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Variant: RGD:15143469 -  Homo sapiens

RGD ID: 15143469
RS ID: rs768150299
ClinVar ID: CV760955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FRMPD4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 12,736,916
GRCh38 X 12,718,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001368400.3:c.3844+7C>A
NM_001368395.3:c.4075+7C>A
NM_001368398.3:c.4075+7C>A
NM_001368396.3:c.3970+7C>A
More... 		05/30/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FRMPD4
Accession:NM_014728
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368395
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368397
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368402
Location:INTRON

Gene Symbol:FRMPD4
Accession:XM_017029983
Location:INTRON

Gene Symbol:FRMPD4
Accession:XM_017029985
Location:INTRON

Gene Symbol:FRMPD4
Accession:XM_017029984
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368399
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368401
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368396
Location:INTRON

Gene Symbol:FRMPD4
Accession:XM_005274632
Location:INTRON

Gene Symbol:FRMPD4
Accession:XM_047442680
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368398
Location:INTRON

Gene Symbol:FRMPD4
Accession:NM_001368400
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000922196 CLINVAR
dbSNP (RS) rs768150299 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FRMPD4 CLINVAR
OMIM 300838 CLINVAR