RGD:150407939 Rat Genome Database

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Variant: RGD:150407939 -  Homo sapiens

RGD ID: 150407939
RS ID: rs2855532
ClinVar ID: CV1182457
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 54,419,965
GRCh38 14 53,953,247
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347913.2:c.-144+29C>T
NM_001347915.2:c.-144+29C>T
NM_001347917.1:c.-144+29C>T
NM_001202.6:c.-8+29C>T
More... 		07/14/2021 intron variant benign Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; Microphthalmia and pituitary anomalies; Microphthalmia syndromic 6; Microphthalmia with brain and digit developmental anomalies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP4
Accession:NM_001347917
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001347916
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001202
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001347914
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_130850
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001347915
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001347913
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_130851
Location:5UTRS;INTRON

Gene Symbol:BMP4
Accession:NM_001347912
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001554241 CLINVAR
dbSNP (RS) rs2855532 CLINVAR
MedGen C1864689 CLINVAR
NCBI Gene BMP4 CLINVAR
OMIM 112262 CLINVAR
  607932 CLINVAR