RGD:8555491 Rat Genome Database

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Variant: RGD:8555491 -  Homo sapiens

RGD ID: 8555491
RS ID: rs775217258
ClinVar ID: CV15230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH3PXD2B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 171,849,502
GRCh38 5 172,422,498
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000005.10:g.172422498T>G
NC_000005.9:g.171849502T>G
NG_027746.2:g.37026A>C
NM_001017995.2:c.76-2A>C
More... 		01/05/2011 splice acceptor variant pathogenic <1 / 1 000 000 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SH3PXD2B
Accession:NM_001308175
Location:INTRON

Gene Symbol:SH3PXD2B
Accession:XM_017009351
Location:INTRON

Gene Symbol:SH3PXD2B
Accession:NM_001017995
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20137777  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000214 CLINVAR
dbSNP (RS) rs775217258 CLINVAR
MedGen C1855305 CLINVAR
NCBI Gene SH3PXD2B CLINVAR
OMIM 249420 CLINVAR
  613293 CLINVAR
OMIM Allele 613293.0004 CLINVAR