RGD:15118817 Rat Genome Database

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Variant: RGD:15118817 -  Homo sapiens

RGD ID: 15118817
RS ID: rs754743294
ClinVar ID: CV744035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MASP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 186,968,126
GRCh38 3 187,250,338
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031849.3:c.1012-9T>C
NM_001879.6:c.1012-9T>C
NM_139125.4:c.1012-9T>C
NG_029440.1:g.46685T>C
More... 		08/23/2018 intron variant likely benign Craniosynostosis with lid anomalies; Michels syndrome; Oculopalatoskeletal syndrome
Disease Annotations     Click to see Annotation Detail View
3MC syndrome 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MASP1
Accession:NM_139125
Location:INTRON

Gene Symbol:MASP1
Accession:NM_001031849
Location:INTRON

Gene Symbol:MASP1
Accession:NM_001879
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MASP1
Accession:NR_033519
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470611 CLINVAR
dbSNP (RS) rs754743294 CLINVAR
MedGen C0796059 CLINVAR
NCBI Gene MASP1 CLINVAR
OMIM 257920 CLINVAR
  600521 CLINVAR