RGD:152083618 Rat Genome Database

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Variant: RGD:152083618 -  Homo sapiens

RGD ID: 152083618
RS ID: rs182921787
ClinVar ID: CV1526393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAH11  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 21,912,874
GRCh38 7 21,873,256
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.11968-18C>A
NG_012886.2:g.335042C>A
NC_000007.14:g.21873256C>A
NC_000007.13:g.21912874C>A
09/21/2021 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 RCV002170869 CLINVAR
dbSNP (RS) rs182921787 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAH11 CLINVAR
OMIM 603339 CLINVAR