RGD:12884421 Rat Genome Database

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Variant: RGD:12884421 -  Homo sapiens

RGD ID: 12884421
RS ID: rs374509704
ClinVar ID: CV395553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 21,628,262
GRCh38 7 21,588,644
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.50430G>C
NC_000007.14:g.21588644G>C
NC_000007.13:g.21628262G>C
NM_001277115.2:c.1973+8G>C
More... 		06/28/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAH11
Accession:NM_001277115
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000463412 CLINVAR
  RCV003960111 CLINVAR
dbSNP (RS) rs374509704 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR