RGD:156396987 Rat Genome Database

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Variant: RGD:156396987 -  Homo sapiens

RGD ID: 156396987
ClinVar ID: CV2012479
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,579,413
GRCh38 16 75,545,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077418.3:c.439-20G>T
NM_001077416.2:c.598-20G>T
NG_033109.1:g.15772G>T
NC_000016.10:g.75545515C>A
More... 		08/16/2022 intron variant likely benign Meckel syndrome, type 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM231
Accession:NM_001077418
Location:INTRON

Gene Symbol:TMEM231
Accession:NM_001077416
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 RCV002725649 CLINVAR
MedGen C3554235 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR