RGD:127295065 Rat Genome Database

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Variant: RGD:127295065 -  Homo sapiens

RGD ID: 127295065
RS ID: rs775144326
ClinVar ID: CV1117752
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 21,824,035
GRCh38 7 21,784,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277115.2:c.9484-10C>T
NG_012886.2:g.246203C>T
NC_000007.14:g.21784417C>T
NC_000007.13:g.21824035C>T
 06/26/2019 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001452396 CLINVAR
dbSNP (RS) rs775144326 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR