RGD:11610960 Rat Genome Database

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Variant: RGD:11610960 -  Homo sapiens

RGD ID: 11610960
RS ID: rs748975641
ClinVar ID: CV306094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 27,141,056
GRCh38 7 27,101,437
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
NC_000007.14:g.27101437G>A
NC_000007.13:g.27141056G>A
NP_006726.1:p.Gly140=
NM_006735.3:c.420C>T
More... 		06/14/2016 synonymous variant uncertain significance infancy <1 / 1 000 000 Microtia, hearing impairment, and cleft palate
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HOXA2
Accession:NM_006735
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNYEFEREIGFINSQPSLAECLTSFPPVADTFQSSSIKTSTLSHSTLIPPPFEQTIPSLNPGSHPRHGAGGRPKPSPAGS
RGSPVPAGALQPPEYPWMKEKKAAKKTALLPAAAAAATAAATGPACLSHKESLEIADGSGGGSRRLRTAYTNTQLLELEK
EFHFNKYLCRPRRVEIAALLDLTERQVKVWFQNRRMKHKRQTQCKENQNSEGKCKSLEDSEKVEEDEEEKTLFEQALSVS
GALLEREGYTFQQNALSQQQAPNGHNGDSQSFPVSPLTSNEKNLKHFQHQSPTVPNCLSTMGQNCGAGLNNDSPEALEVP
SLQDFSVFSTDSCLQLSDAVSPSLPGSLDSPVDISADSLDFFTDTLTTIDLQHLNY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387878 CLINVAR
dbSNP (RS) rs748975641 CLINVAR
MedGen C2676772 CLINVAR
NCBI Gene HOXA2 CLINVAR
OMIM 604685 CLINVAR
  612290 CLINVAR