RGD:14704601 Rat Genome Database

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Variant: RGD:14704601 -  Homo sapiens

RGD ID: 14704601
RS ID: rs72657354
ClinVar ID: CV651793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 21,760,475
GRCh38 7 21,720,857
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.182643G>A
NC_000007.14:g.21720857G>A
NC_000007.13:g.21760475G>A
NM_001277115.1:c.7266+1G>A
More... 		10/23/2018 splice donor variant pathogenic
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:16199547   PMID:18022865   PMID:20513915   PMID:22184204   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000797963 CLINVAR
dbSNP (RS) rs72657354 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR