RGD:11580792 Rat Genome Database

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Variant: RGD:11580792 -  Homo sapiens

RGD ID: 11580792
RS ID: rs200503833
ClinVar ID: CV266498
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 177,027,249
GRCh38 5 177,600,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_015977.1:g.5131G>A
NC_000005.10:g.177600248G>A
NC_000005.9:g.177027249G>A
NP_009186.1:p.Trp13Ter
More... 		11/13/2023 nonsense pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance childhood <1 / 1 000 000 DERMATAN SULFATE PROTEOGLYCAN; ED syndrome; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1; Ehlers-Danlos syndrome, spondylodysplastic type; GALACTOSYLTRANSFERASE I DEFICIENCY; none provided; PDS, DEFECTIVE BIOSYNTHESIS OF; XGPT DEFICIENCY; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B4GALT7
Accession:XM_047416681
Location:5UTRS;EXON

Gene Symbol:B4GALT7
Accession:XM_047416682
Location:5UTRS;EXON

Gene Symbol:B4GALT7
Accession:NM_007255
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSRRKAAQLP*EDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPP
PEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIA
MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTA
TPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416680
Location:INTRON

Gene Symbol:B4GALT7
Accession:XM_006714816
Location:INTRON

Gene Symbol:B4GALT7
Accession:XM_017008999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:31278392   PMID:31614862  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000344285 CLINVAR
  RCV000725058 CLINVAR
  RCV002278270 CLINVAR
  RCV002470837 CLINVAR
dbSNP (RS) rs200503833 CLINVAR
MedGen C0013720 CLINVAR
  C3661900 CLINVAR
  C4552003 CLINVAR
  CN030853 CLINVAR
NCBI Gene B4GALT7 CLINVAR
  LOC129995400 CLINVAR
OMIM 130070 CLINVAR
  604327 CLINVAR
SNOMED CT 398114001 CLINVAR
  720861000 CLINVAR