RGD:14720880 Rat Genome Database

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Variant: RGD:14720880 -  Homo sapiens

RGD ID: 14720880
RS ID: rs139205111
ClinVar ID: CV626850
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAX1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 154,245,918
GRCh38 1 154,273,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_64t1:c.160C>G
NM_001018837.2:c.54-38C>G
LRG_64:g.5880C>G
NG_007369.1:g.5880C>G
More... 		05/02/2020 intron variant likely benign|uncertain significance 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_006118
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSAQHPPEEFGFGFSFSPGGGIRFHDNFG
FDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLREGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDW
GSQRPFHRFDDVWPMDPHPRTREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTV
TRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR*

Gene Symbol:HAX1
Accession:NM_001018837
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000813212 CLINVAR
  RCV002538154 CLINVAR
dbSNP (RS) rs139205111 CLINVAR
MedGen C0950123 CLINVAR
  C5235141 CLINVAR
NCBI Gene HAX1 CLINVAR
OMIM 605998 CLINVAR
  610738 CLINVAR
SNOMED CT 770942003 CLINVAR