RGD:8573660 Rat Genome Database

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Variant: RGD:8573660 -  Homo sapiens

RGD ID: 8573660
RS ID: rs398122360
ClinVar ID: CV94414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 27,140,773
GRCh38 7 27,101,154
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_012078.1:g.6622C>T
NC_000007.14:g.27101154G>A
NC_000007.13:g.27140773G>A
NP_006726.1:p.Gln235Ter
More... 		07/15/2014 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HOXA2
Accession:NM_006735
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKPSPAGS
RGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEK
EFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFE*ALSVS
GALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLSTMGQNCGAGLNNDSPEALEVP
SLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLDFFTDTLTTIDLQHLNY*
Variant Samples
Additional References at PubMed
PMID:23775976  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000074433 CLINVAR
dbSNP (RS) rs398122360 CLINVAR
MedGen C3808166 CLINVAR
NCBI Gene HOXA2 CLINVAR
OMIM 604685 CLINVAR
OMIM Allele 604685.0002 CLINVAR