RGD:11558333 Rat Genome Database

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Variant: RGD:11558333 -  Homo sapiens

RGD ID: 11558333
RS ID: rs886039807
ClinVar ID: CV260923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 75,575,364
GRCh38 16 75,541,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077416.2:c.824-11T>C
NG_033109.1:g.19821T>C
NC_000016.10:g.75541466A>G
NC_000016.9:g.75575364A>G
More... 		12/19/2023 intron variant pathogenic|likely benign Meckel syndrome, type 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM231
Accession:NM_001077416
Location:INTRON

Gene Symbol:TMEM231
Accession:NM_001077418
Location:INTRON

Gene Symbol:TMEM231
Accession:NR_074083
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000256458 CLINVAR
  RCV003765571 CLINVAR
dbSNP (RS) rs886039807 CLINVAR
MedGen C3554235 CLINVAR
  C5679612 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR