RGD:9693374 Rat Genome Database

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Variant: RGD:9693374 -  Homo sapiens

RGD ID: 9693374
RS ID: rs546358774
ClinVar ID: CV177401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM126A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 85,366,742
GRCh38 11 85,655,698
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.85655698C>G
NC_000011.9:g.85366742C>G
NG_017157.2:g.12780C>G
NP_001231664.1:p.Leu59Val
More... 		10/07/2020 missense variant conflicting interpretations of pathogenicity|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_001244735
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGVAARYQSALLPHKGNILSYWIR
TSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH*

Gene Symbol:TMEM126A
Accession:NM_032273
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTD
LTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGVAARYQSALLPHKGNILSYWIRTSKPVFRKML
FPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000154005 CLINVAR
  RCV001114564 CLINVAR
dbSNP (RS) rs546358774 CLINVAR
MedGen C2751812 CLINVAR
  C3661900 CLINVAR
NCBI Gene TMEM126A CLINVAR
OMIM 612988 CLINVAR
  612989 CLINVAR