RGD:13789781 Rat Genome Database

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Variant: RGD:13789781 -  Homo sapiens

RGD ID: 13789781
RS ID: rs1554972958
ClinVar ID: CV546321
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: TMEM216  
Reference Nucleotide: -
Variant Nucleotide: TA
Position
Assembly Chr Position
GRCh37 11 61,165,332
GRCh38 11 61,397,860
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001173990.2:c.316_317insTA
NP_001167461.1:p.Tyr106fs
NP_001317214.1:p.Tyr45fs
NP_057583.2:p.Tyr45fs
More... 		05/22/2018 frameshift variant likely pathogenic Cerebellooculorenal syndrome 2; Meckel syndrome, type 2; MECKEL-GRUBER SYNDROME, TYPE 2; MKS2-Related Meckel Syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM216
Accession:NM_001330285
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSRI*

Gene Symbol:TMEM216
Accession:NM_001173991
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSSMDRI*

Gene Symbol:TMEM216
Accession:NM_001173990
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDVVMLLLYLGIEVIRLFFGTKG
NLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAAFSRI*

Gene Symbol:TMEM216
Accession:NM_016499
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIMNGILLFFCGSELLLEVLTLAA
FSSMDRI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001787351 CLINVAR
dbSNP (RS) rs1554972958 CLINVAR
MedGen C1842577 CLINVAR
NCBI Gene TMEM216 CLINVAR
OMIM 603194 CLINVAR
  608091 CLINVAR
  613277 CLINVAR