RGD:11660178 Rat Genome Database

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Variant: RGD:11660178 -  Homo sapiens

RGD ID: 11660178
RS ID: rs886048714
ClinVar ID: CV328321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM126A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 85,367,459
GRCh38 11 85,656,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.85656415A>G
NC_000011.9:g.85367459A>G
NP_115649.1:p.Met168Val
NM_032273.4:c.502A>G
More... 		06/14/2016 missense variant uncertain significance none provided; Optic atrophy 7; OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM126A
Accession:NM_032273
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTD
LTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKML
FPILLQTVFSAYLGSEQYKLLIKALQLSEPGKEIH*

Gene Symbol:TMEM126A
Accession:NM_001244735
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIR
TSKPVFRKMLFPILLQTVFSAYLGSEQYKLLIKALQLSEPGKEIH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000364617 CLINVAR
  RCV002520775 CLINVAR
dbSNP (RS) rs886048714 CLINVAR
MedGen C2751812 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMEM126A CLINVAR
OMIM 612988 CLINVAR
  612989 CLINVAR