RGD:11638523 Rat Genome Database

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Variant: RGD:11638523 -  Homo sapiens

RGD ID: 11638523
RS ID: rs111262341
ClinVar ID: CV265636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GREM1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 33,022,994
GRCh38 15 32,730,793
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.32730793C>G
NC_000015.9:g.33022994C>G
NP_037504.1:p.Pro35Ala
NG_033791.2:g.17790C>G
More... 		07/30/2022 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CKTSF1B1
Accession:NM_013372
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPAPDKAQHNDSEQTQSPQQPGSRNRGRGQGRGTAMPGEEVLESSQEA
LHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYGQCNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPE
LQPPTKKKRVTRVKQCRCISIDLD*

Gene Symbol:GREM1
Accession:NM_001368719
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPAPDKAQHNDSEQTQSPQQPGSRNRGRGQGRGTAMPGEEVLESSQEA
LHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYGQCNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPE
LQPPTKKKRVTRVKQCRCISIDLD*

Gene Symbol:GREM1
Accession:NM_001191323
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPAPDKALHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYGQ
CNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPELQPPTKKKRVTRVKQCRCISIDLD*

Gene Symbol:GREM1
Accession:NM_001191322
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000305327 CLINVAR
  RCV001579712 CLINVAR
  RCV002059079 CLINVAR
  RCV002258868 CLINVAR
dbSNP (RS) rs111262341 CLINVAR
MedGen C0027672 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN280943 CLINVAR
NCBI Gene GREM1 CLINVAR
OMIM 603054 CLINVAR
SNOMED CT 699346009 CLINVAR