RGD:28898117 Rat Genome Database

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Pathways
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Variant: RGD:28898117 -  Homo sapiens

RGD ID: 28898117
RS ID: rs372013791
ClinVar ID: CV893927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SH3PXD2B  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 171,765,508
GRCh38 5 172,338,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308175.2:c.1188+7632C>G
NM_001017995.3:c.2601C>G
NG_027746.2:g.121020C>G
NP_001017995.1:p.Thr867=
More... 		02/18/2020 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:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 895
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKI
LFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVV
ANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEVSWRYWSLPRPVGRRRTL
GDLYAISWRQEEKYTVIYPYTARDQDEMNLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSP
SHPGALDLDGVSRQQNAVGREKELLSSQRDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEE
YYTIAEFQTTIPDGISFQAGLKVEVIEKNLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEA
AALENNTGSEATGPSRPLPDAPHGVMDSGLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKS
EGELLERERERQRTEQLRGPTPKPPGVILPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNL
RPISKSKTDLPEEKPDATPQNPFLKSRPQVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQ
DVAFSRSFLPGEGPGRAQDRTGKQDGLSPKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSS
RPLPEVRGPQCEGHESRAAPTPGRALLVPPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKD
SLYVAVADFEGDKDTSSFQEGTVFEVREKNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP*

Gene Symbol:SH3PXD2B
Accession:NM_001017995
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 867
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRRSIVEVKVLDVQKRRVPNKHYVYIIRVTWSSGSTEAIYRRYSKFFDLQMQMLDKFPMEGGQKDPKQRIIPFLPGKI
LFRRSHIRDVAVKRLIPIDEYCKALIQLPPYISQCDEVLQFFETRPEDLNPPKEEHIGKKKSGGDQTSVDPMVLEQYVVV
ANYQKQESSEISLSVGQVVDIIEKNESGWWFVSTAEEQGWVPATCLEGQDGVQDEFSLQPEEEEKYTVIYPYTARDQDEM
NLERGAVVEVIQKNLEGWWKIRYQGKEGWAPASYLKKNSGEPLPPKPGPGSPSHPGALDLDGVSRQQNAVGREKELLSSQ
RDGRFEGRPVPDGDAKQRSPKMRQRPPPRRDMTIPRGLNLPKPPIPPQVEEEYYTIAEFQTTIPDGISFQAGLKVEVIEK
NLSGWWYIQIEDKEGWAPATFIDKYKKTSNASRPNFLAPLPHEVTQLRLGEAAALENNTGSEATGPSRPLPDAPHGVMDS
GLPWSKDWKGSKDVLRKASSDMSASAGYEEISDPDMEEKPSLPPRKESIIKSEGELLERERERQRTEQLRGPTPKPPGVI
LPMMPAKHIPPARDSRRPEPKPDKSRLFQLKNDMGLECGHKVLAKEVKKPNLRPISKSKTDLPEEKPDATPQNPFLKSRP
QVRPKPAPSPKTEPPQGEDQVDICNLRSKLRPAKSQDKSLLDGEGPQAVGGQDVAFSRSFLPGEGPGRAQDRTGKQDGLS
PKEISCRAPPRPAKTTDPVSKSVPVPLQEAPQQRPVVPPRRPPPPKKTSSSSRPLPEVRGPQCEGHESRAAPTPGRALLV
PPKAKPFLSNSLGGQDDTRGKGSLGPWGTGKIGENREKAAAASVPNADGLKDSLYVAVADFEGDKDTSSFQEGTVFEVRE
KNSSGWWFCQVLSGAPSWEGWIPSNYLRKKP*

Gene Symbol:SH3PXD2B
Accession:NM_001308175
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001155300 CLINVAR
  RCV001487803 CLINVAR
dbSNP (RS) rs372013791 CLINVAR
MedGen C1855305 CLINVAR
  C3661900 CLINVAR
NCBI Gene SH3PXD2B CLINVAR
OMIM 249420 CLINVAR
  613293 CLINVAR