RGD:14710723 Rat Genome Database

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Variant: RGD:14710723 -  Homo sapiens

RGD ID: 14710723
RS ID: rs371504152
ClinVar ID: CV650659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAX1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 154,246,248
GRCh38 1 154,273,772
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_64t1:c.317-2A>G
NM_001018837.2:c.173-2A>G
LRG_64:g.6210A>G
NG_007369.1:g.6210A>G
More... 		09/16/2020 splice acceptor variant pathogenic|likely pathogenic Agranulocytosis infantile; Autosomal recessive severe congenital neutropenia type 3; Kostmann disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HAX1
Accession:NM_001018837
Location:INTRON

Gene Symbol:HAX1
Accession:NM_006118
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17187068   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000809695 CLINVAR
dbSNP (RS) rs371504152 CLINVAR
MedGen C5235141 CLINVAR
NCBI Gene HAX1 CLINVAR
OMIM 605998 CLINVAR
  610738 CLINVAR
SNOMED CT 770942003 CLINVAR