RGD:15149093 Rat Genome Database

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Variant: RGD:15149093 -  Homo sapiens

RGD ID: 15149093
RS ID: rs139072904
ClinVar ID: CV689066
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B9D2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 41,860,797
GRCh38 19 41,354,892
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.336G>A
NG_013091.1:g.14282G>A
NG_013364.1:g.4035G>A
NC_000019.10:g.41354892C>T
More... 		11/21/2017 synonymous variant likely benign B9D2-related condition; 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_011527350
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYWSHPIDLHFATKGLQGWPRLHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQ
LLHGDTIYSGADRYRLHTAAGGTVHLEIGLLLRNFDRYGVEC*

Gene Symbol:B9D2
Accession:NM_030578
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQV
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLRNFDRYGVEC*

Gene Symbol:B9D2
Accession:XM_011527349
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPRLHFQV
WSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLHTAAGGTVHLE
IGLLLRNFDRYGVEC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002536746 CLINVAR
  RCV003975411 CLINVAR
dbSNP (RS) rs139072904 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene B9D2 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  611951 CLINVAR
SNOMED CT 253175003 CLINVAR