RGD:28891456 Rat Genome Database

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Variant: RGD:28891456 -  Homo sapiens

RGD ID: 28891456
RS ID: rs1413927849
ClinVar ID: CV886809
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RIPK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 43,160,174
GRCh38 21 41,740,014
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020639.3:c.*824C>T
NM_020639.2:c.*824C>T
NG_032113.2:g.32076C>T
NC_000021.9:g.41740014G>A
More... 		01/12/2018 3 prime utr variant uncertain significance Bartsocas-Papas syndrome; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE; Popliteal pterygium syndrome lethal type; PTERYGIUM, POPLITEAL, LETHAL TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RIPK4
Accession:NM_020639
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001139402 CLINVAR
dbSNP (RS) rs1413927849 CLINVAR
MedGen C1849718 CLINVAR
NCBI Gene RIPK4 CLINVAR
OMIM 263650 CLINVAR
  605706 CLINVAR