RGD:8567897 Rat Genome Database

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Variant: RGD:8567897 -  Homo sapiens

RGD ID: 8567897
ClinVar ID: CV38707
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HBG2  LOC106099065  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 5,275,646
GRCh38 11 5,254,416
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_000007.3:g.43200A>T
NG_042299.1:g.530T>A
NM_000184.3:c.191A>T
NC_000011.10:g.5254416T>A
More... 		08/05/2011 missense variant pathogenic neonatal/infancy <1 / 1 000 000 CYANOSIS, TRANSIENT NEONATEL
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HBG2
Accession:NM_000184
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLD
DLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH*
Variant Samples
Additional References at PubMed
PMID:19065339  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022614 CLINVAR
MedGen C3151421 CLINVAR
NCBI Gene HBG2 CLINVAR
  LOC106099065 CLINVAR
OMIM 142250 CLINVAR
  613977 CLINVAR
OMIM Allele 142250.0050 CLINVAR