RGD:11541280 Rat Genome Database

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Variant: RGD:11541280 -  Homo sapiens

RGD ID: 11541280
RS ID: rs74726213
ClinVar ID: CV248553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIM1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 100,838,419
GRCh38 6 100,390,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008230.1:g.78133G>C
NC_000006.12:g.100390543C>G
NC_000006.11:g.100838419C>G
NP_005059.2:p.Asp707His
More... 		08/24/2023 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance neonatal Absence or underdevelopment of the 6th and 7th cranial nerves; AllHighlyPenetrant; Congenital facial diplegia syndrome; Congenital oculofacial paralysis; Moebius Sequence; Möbius Syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIM1
Accession:NM_005068
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 707
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRTSPLDNVGREL
GSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSF
FLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGLVAVGHSLPPSAVTEIKLHSNMFMFRASLDM
KLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVHNSRSS
RPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSES
DHDSQWGGSPLTDTASPQLLDPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLG
TPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPGSASESGDRYRTEQYQSSPHE
PSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGKKHSLCFANYQQPPPTGEVCHGSALANTSPCDHIQQREGKM
LSPHENDYDNSPTALSRISSPNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFGSHRQYFHKHAYTLTGYALEH
LYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS*

Gene Symbol:SIM1
Accession:NM_001374769
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 707
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRTSPLDNVGREL
GSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSF
FLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGLVAVGHSLPPSAVTEIKLHSNMFMFRASLDM
KLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVHNSRSS
RPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSES
DHDSQWGGSPLTDTASPQLLDPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLG
TPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPGSASESGDRYRTEQYQSSPHE
PSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGKKHSLCFANYQQPPPTGEVCHGSALANTSPCDHIQQREGKM
LSPHENDYDNSPTALSRISSPNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFGSHRQYFHKHAYTLTGYALEH
LYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS*
Variant Samples
Additional References at PubMed
PMID:2152513   PMID:23778139   PMID:25234154   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000240299 CLINVAR
  RCV000482527 CLINVAR
  RCV001158265 CLINVAR
  RCV001174498 CLINVAR
  RCV001820794 CLINVAR
  RCV002518552 CLINVAR
  RCV003409370 CLINVAR
dbSNP (RS) rs74726213 CLINVAR
MedGen C0221060 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
  C5191050 CLINVAR
  CN169374 CLINVAR
NCBI Gene SIM1 CLINVAR
OMIM 157900 CLINVAR
  603128 CLINVAR
SNOMED CT 89444000 CLINVAR