RGD:26914048 Rat Genome Database

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Variant: RGD:26914048 -  Homo sapiens

RGD ID: 26914048
RS ID: rs760432560
ClinVar ID: CV847725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B9D2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,860,895
GRCh38 19 41,354,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030578.4:c.238G>A
NG_013091.1:g.14184G>A
NG_013364.1:g.3937G>A
NC_000019.10:g.41354990C>T
More... 		02/11/2019 missense variant uncertain significance Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B9D2
Accession:XM_011527349
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQM
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLRNFDRYGVEC*

Gene Symbol:B9D2
Accession:XM_011527350
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYWSHPIDLHFATKGLQGWPRLHFQMWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQ
LLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC*

Gene Symbol:B9D2
Accession:NM_030578
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQM
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLRNFDRYGVEC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001054693 CLINVAR
dbSNP (RS) rs760432560 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene B9D2 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  611951 CLINVAR
SNOMED CT 253175003 CLINVAR