RGD:11589832 Rat Genome Database

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Variant: RGD:11589832 -  Homo sapiens

RGD ID: 11589832
RS ID: rs544123058
ClinVar ID: CV277277
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 154,245,050
GRCh38 1 154,272,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_64t1:c.-150A>T
LRG_64:g.5012A>T
NG_007369.1:g.5012A>T
NC_000001.11:g.154272574A>T
More... 		01/12/2018 5 prime utr variant uncertain significance Agranulocytosis infantile; Autosomal recessive severe congenital neutropenia type 3; Kostmann disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000313879 CLINVAR
dbSNP (RS) rs544123058 CLINVAR
MedGen C5235141 CLINVAR
NCBI Gene HAX1 CLINVAR
  LOC129931498 CLINVAR
OMIM 605998 CLINVAR
  610738 CLINVAR
SNOMED CT 770942003 CLINVAR