RGD:38499870 Rat Genome Database

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Variant: RGD:38499870 -  Homo sapiens

RGD ID: 38499870
RS ID: rs1783074775
ClinVar ID: CV960630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 21,901,470
GRCh38 7 21,861,852
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.11203-1G>C
NG_012886.2:g.323638G>C
NC_000007.14:g.21861852G>C
NC_000007.13:g.21901470G>C
More...
08/24/2023 splice acceptor variant pathogenic|likely 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   PMID:31772028  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001245195 CLINVAR
dbSNP (RS) rs1783074775 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR