RGD:11588999 Rat Genome Database

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Variant: RGD:11588999 -  Homo sapiens

RGD ID: 11588999
RS ID: rs2339428
ClinVar ID: CV298803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH3PXD2B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 171,762,575
GRCh38 5 172,335,571
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_027746.2:g.123953T>C
NC_000005.10:g.172335571A>G
NC_000005.9:g.171762575A>G
NM_001308175.2:c.1189-10191T>C
More... 		06/14/2016 3 prime utr variant benign <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_001017995
Location:3UTRS;EXON

Gene Symbol:SH3PXD2B
Accession:XM_017009351
Location:3UTRS;EXON

Gene Symbol:SH3PXD2B
Accession:NM_001308175
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307320 CLINVAR
dbSNP (RS) rs2339428 CLINVAR
MedGen C1855305 CLINVAR
NCBI Gene SH3PXD2B CLINVAR
OMIM 249420 CLINVAR
  613293 CLINVAR