RGD:8558813 Rat Genome Database

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Variant: RGD:8558813 -  Homo sapiens

RGD ID: 8558813
RS ID: rs121917818
ClinVar ID: CV20651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 177,034,506
GRCh38 5 177,607,505
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.12388T>C
NC_000005.10:g.177607505T>C
NC_000005.9:g.177034506T>C
NP_009186.1:p.Leu206Pro
More... 		08/01/2013 missense|missense variant pathogenic adolescence / young adulthood|childhood|infancy <1 / 1 000 000 Ehlers-Danlos syndrome, spondylodysplastic type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B4GALT7
Accession:NM_007255
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPP
PEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIA
MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTA
TPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416681
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_017008999
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416680
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416682
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_006714816
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLPSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTA
TPWCTFS*
Variant Samples
Additional References at PubMed
PMID:10473568   PMID:10506123  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005964 CLINVAR
dbSNP (RS) rs121917818 CLINVAR
MedGen CN030853 CLINVAR
NCBI Gene B4GALT7 CLINVAR
OMIM 604327 CLINVAR
OMIM Allele 604327.0002 CLINVAR
SNOMED CT 720861000 CLINVAR