RGD:28898630 Rat Genome Database

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Variant: RGD:28898630 -  Homo sapiens

RGD ID: 28898630
RS ID: rs79535495
ClinVar ID: CV896077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH3PXD2B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 171,800,780
GRCh38 5 172,373,776
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027746.2:g.85748C>T
NC_000005.10:g.172373776G>A
NC_000005.9:g.171800780G>A
NM_001017995.2:c.427+14C>T
More... 		04/04/2023 intron variant likely benign|uncertain significance Autosomal recessive Melnick-Needles syndrome (formerly); BORRONE DERMATOCARDIOSKELETAL SYNDROME; Borrone di Rocco Crovato syndrome; Megalocornea, multiple skeletal anomalies, and developmental delay; MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SH3PXD2B
Accession:XM_017009351
Location:INTRON

Gene Symbol:SH3PXD2B
Accession:NM_001017995
Location:INTRON

Gene Symbol:SH3PXD2B
Accession:NM_001308175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155509 CLINVAR
  RCV003769744 CLINVAR
dbSNP (RS) rs79535495 CLINVAR
MedGen C1855305 CLINVAR
  C3661900 CLINVAR
NCBI Gene SH3PXD2B CLINVAR
OMIM 249420 CLINVAR
  613293 CLINVAR