RGD:9681772 Rat Genome Database

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Variant: RGD:9681772 -  Homo sapiens

RGD ID: 9681772
RS ID: rs606231254
ClinVar ID: CV167358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAL4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 39,176,929
GRCh38 22 38,780,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_041804.1:g.18233T>C
NC_000022.11:g.38780924A>G
NC_000022.10:g.39176929A>G
NM_005740.2:c.153+2T>C
More...
11/03/2014 splice donor variant pathogenic childhood|infancy|neonatal <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAL4
Accession:NM_005740
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25098561  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144852 CLINVAR
dbSNP (RS) rs606231254 CLINVAR
MedGen C4015124 CLINVAR
NCBI Gene DNAL4 CLINVAR
OMIM 610565 CLINVAR
  616059 CLINVAR
OMIM Allele 610565.0001 CLINVAR