RGD:28911517 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:28911517 -  Homo sapiens

RGD ID: 28911517
RS ID: rs374037026
ClinVar ID: CV871932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP4  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 54,416,719
GRCh38 14 53,950,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202.6:c.*31T>A
NM_001347912.1:c.*31T>A
NM_001347916.1:c.*31T>A
NM_001347917.1:c.*31T>A
More...
01/13/2018 3 prime utr variant likely benign|uncertain significance Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11; Microphthalmia and pituitary anomalies; Microphthalmia syndromic 6; Microphthalmia with brain and digit developmental anomalies; Orofacial cleft 11; ofc11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP4
Accession:NM_130850
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001202
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_130851
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347912
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347913
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347917
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347916
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347915
Location:3UTRS;EXON

Gene Symbol:BMP4
Accession:NM_001347914
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001110691 CLINVAR
  RCV001110692 CLINVAR
dbSNP (RS) rs374037026 CLINVAR
MedGen C1864689 CLINVAR
  C2677434 CLINVAR
NCBI Gene BMP4 CLINVAR
OMIM 112262 CLINVAR
  600625 CLINVAR
  607932 CLINVAR