RGD:405027609 Rat Genome Database

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Variant: RGD:405027609 -  Homo sapiens

RGD ID: 405027609
ClinVar ID: CV3049201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRELD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 9,985,779
GRCh38 3 9,944,095
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410713.1:c.*344C>T
NM_001077415.3:c.1049-270C>T
NM_001374316.1:c.1049-270C>T
NM_015513.6:c.1049-270C>T
More... 		01/13/2023 3 prime utr variant benign Atrioventricular septal defect 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRELD1
Accession:NM_001410713
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:XM_047448897
Location:3UTRS;EXON

Gene Symbol:CRELD1
Accession:NM_015513
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001031717
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374319
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374316
Location:INTRON

Gene Symbol:CRELD1
Accession:XM_047448898
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001077415
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374320
Location:INTRON

Gene Symbol:CRELD1
Accession:XM_047448900
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374318
Location:INTRON

Gene Symbol:CRELD1
Accession:XM_011534108
Location:INTRON

Gene Symbol:CRELD1
Accession:NM_001374317
Location:INTRON

Gene Symbol:CRELD1
Accession:NR_164477
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164475
Location:INTRON;NON-CODING

Gene Symbol:CRELD1
Accession:NR_164476
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003608590 CLINVAR
MedGen C1853508 CLINVAR
NCBI Gene CRELD1 CLINVAR
OMIM 606217 CLINVAR
  607170 CLINVAR