RGD:11544706 Rat Genome Database

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Variant: RGD:11544706 -  Homo sapiens

RGD ID: 11544706
RS ID: rs60176657
ClinVar ID: CV257239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAAF3  DNAAF3-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,670,989
GRCh38 19 55,159,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256715.2:c.1164-14C>T
NM_178837.4:c.1305-14C>T
NG_032759.1:g.12102C>T
NC_000019.10:g.55159621G>A
More... 		07/09/2018 2kb upstream variant|intron variant benign|likely benign AllHighlyPenetrant; HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DNAAF3
Accession:NM_001256715
Location:INTRON

Gene Symbol:DNAAF3
Accession:NM_001256714
Location:INTRON

Gene Symbol:DNAAF3
Accession:NM_001256716
Location:INTRON

Gene Symbol:DNAAF3
Accession:NM_178837
Location:INTRON

Gene Symbol:DNAAF3-AS1
Accession:XR_936074
Location:INTRON;NON-CODING

Gene Symbol:DNAAF3-AS1
Accession:XR_001754015
Location:INTRON;NON-CODING

Gene Symbol:DNAAF3-AS1
Accession:XR_007067343
Location:INTRON;NON-CODING

Gene Symbol:DNAAF3-AS1
Accession:XR_001754014
Location:INTRON;NON-CODING

Gene Symbol:DNAAF3-AS1
Accession:XR_007067345
Location:INTRON;NON-CODING

Gene Symbol:DNAAF3-AS1
Accession:XR_007067344
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244149 CLINVAR
  RCV000281018 CLINVAR
  RCV000336041 CLINVAR
  RCV000375918 CLINVAR
  RCV000394007 CLINVAR
  RCV001683015 CLINVAR
  RCV002057998 CLINVAR
dbSNP (RS) rs60176657 CLINVAR
MedGen C0007194 CLINVAR
  C0008780 CLINVAR
  C0340429 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239222 CLINVAR
  CN239247 CLINVAR
NCBI Gene DNAAF3 CLINVAR
  DNAAF3-AS1 CLINVAR
  TNNI3 CLINVAR
OMIM 191044 CLINVAR
  614566 CLINVAR
SNOMED CT 233878008 CLINVAR