RGD:11607007 Rat Genome Database

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Variant: RGD:11607007 -  Homo sapiens

RGD ID: 11607007
RS ID: rs7971
ClinVar ID: CV310581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDCA7L  DNAH11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 21,940,960
GRCh38 7 21,901,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012886.2:g.363128A>G
NC_000007.14:g.21901342A>G
NC_000007.13:g.21940960A>G
NM_001277115.1:c.*88A>G
More...
12/17/2021 3 prime utr variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDCA7L
Accession:NM_001127370
Location:3UTRS;EXON

Gene Symbol:DNAH11
Accession:NM_001277115
Location:3UTRS;EXON

Gene Symbol:CDCA7L
Accession:NM_001127371
Location:3UTRS;EXON

Gene Symbol:CDCA7L
Accession:NM_018719
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000338213 CLINVAR
  RCV001653723 CLINVAR
dbSNP (RS) rs7971 CLINVAR
MedGen C0008780 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDCA7L CLINVAR
  DNAH11 CLINVAR
OMIM 603339 CLINVAR
  609685 CLINVAR