RGD:28885826 Rat Genome Database

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Variant: RGD:28885826 -  Homo sapiens

RGD ID: 28885826
RS ID: rs1442638461
ClinVar ID: CV860285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 75,579,789
GRCh38 16 75,545,891
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077416.1:c.460C>G
NC_000016.9:g.75579789G>C
NM_001077416.2:c.532C>G
NG_033109.1:g.15396C>G
More... 		12/16/2021 missense variant pathogenic|uncertain significance Meckel syndrome, type 11; none provided; OFD syndrome 3; OFDS 3; OFDS III; Oral-facial-digital syndrome type 3; ORAL-FACIAL-DIGITAL SYNDROME, TYPE III; Orofaciodigital syndrome 3; Orofaciodigital syndrome III; Sugarman syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM231
Accession:NM_001077418
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGF
LAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELALQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQ
SSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

Gene Symbol:TMEM231
Accession:NM_001077416
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRRSQTWSPGSRSACERCSWRSMSSSLTRSSAVTARGSAPKPRCSCCWPLRSRTSRRCWWPSGATVSLPRPLCHEAPR
ARSARAGLPNRLPTALFNSGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREE
DRNQDGKTDMLHFKLELALQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCG
GLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVK
FAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:25869670   PMID:26489029   PMID:28492532   PMID:34354814  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001091760 CLINVAR
  RCV001266402 CLINVAR
  RCV001335605 CLINVAR
  RCV001382651 CLINVAR
  RCV002240644 CLINVAR
  RCV003152616 CLINVAR
dbSNP (RS) rs1442638461 CLINVAR
MedGen C0406726 CLINVAR
  C0950123 CLINVAR
  C3554235 CLINVAR
  C3661900 CLINVAR
  C5679612 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 258850 CLINVAR
  614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR
SNOMED CT 239030004 CLINVAR