RGD:150547795 Rat Genome Database

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Variant: RGD:150547795 -  Homo sapiens

RGD ID: 150547795
RS ID: rs1555895725
ClinVar ID: CV1292292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MID1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 10,463,732
GRCh38 X 10,495,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193280.1:c.643-1G>A
NM_033289.2:c.643-1G>A
NM_000381.4:c.757-1G>A
NM_001098624.2:c.757-1G>A
More... 		10/28/2021 splice acceptor variant likely pathogenic OPITZ BBBG SYNDROME, TYPE I; OPITZ SYNDROME, X-LINKED; Opitz-Frias syndrome; OPITZ-G SYNDROME, TYPE I
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MID1
Accession:NM_001193279
Location:INTRON

Gene Symbol:MID1
Accession:NM_001193278
Location:INTRON

Gene Symbol:MID1
Accession:NM_001098624
Location:INTRON

Gene Symbol:MID1
Accession:NM_033289
Location:INTRON

Gene Symbol:MID1
Accession:NM_001193277
Location:INTRON

Gene Symbol:MID1
Accession:NM_000381
Location:INTRON

Gene Symbol:MID1
Accession:NM_001193280
Location:INTRON

Gene Symbol:MID1
Accession:NM_033290
Location:INTRON

Gene Symbol:MID1
Accession:NM_001347733
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001733877 CLINVAR
dbSNP (RS) rs1555895725 CLINVAR
MedGen C2936904 CLINVAR
NCBI Gene MID1 CLINVAR
OMIM 300000 CLINVAR
  300552 CLINVAR
SNOMED CT 81771002 CLINVAR