RGD:13623800 Rat Genome Database

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Variant: RGD:13623800 -  Homo sapiens

RGD ID: 13623800
RS ID: rs1555016653
ClinVar ID: CV526447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GAT1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 66,114,847
GRCh38 11 66,347,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033202.1:g.5315A>C
NC_000011.10:g.66347376T>G
NC_000011.9:g.66114847T>G
NP_006867.1:p.Asp57Ala
More... 		12/15/2017 missense variant uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B4GAT1
Accession:NM_006876
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVAQVKAQLRTALASGGVLDASGDYR
VYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP
WQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQF
KQELKAKYPNSPRRC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000651511 CLINVAR
dbSNP (RS) rs1555016653 CLINVAR
MedGen C3809042 CLINVAR
NCBI Gene B4GAT1 CLINVAR
OMIM 605517 CLINVAR
  615287 CLINVAR