rs767105962 Rat Genome Database

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Variant: rs767105962 -  Homo sapiens

RGD ID: 151859570
RS ID: rs767105962
ClinVar ID: CV1373923
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG1  VCF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 71,204,538
GRCh38 17 73,208,399
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098832.2:c.*1130G>A
NM_001289412.2:c.*1130G>A
NM_032837.3:c.*1130G>A
NM_001289410.1:c.*1279G>A
More... 		02/09/2022 3 prime utr variant uncertain significance CDG 2G; CDG IIg; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME; Congenital disorder of glycosylation type 2G; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VCF1
Accession:NM_032837
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:NM_001098832
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:NM_001289410
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:NM_001289411
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:NM_001289412
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:XM_024451008
Location:3UTRS;EXON

Gene Symbol:VCF1
Accession:XM_047436947
Location:3UTRS;EXON

Gene Symbol:COG1
Accession:NM_018714
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 964
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLIEAADTIGQMRRCAVGLVDAV
KATDQYCARLRQAGSAAPRPPRAQQPQQPSQEKFYSMAAQIKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLD
SSSSRYSPVLSRFPILIRQVAAASHFRSTILHESKMLLKCQGVSDQAVAEALCSIMLLEESSPRQALTDFLLARKATIQK
LLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITGQHPAGKGTGVLQEEMKLCSW
FKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNEDIKNGITNLLMYVKSMKGLAGIRDAMWELLTNESTNHSWD
VLCRRLLEKPLLFWEDMMQQLFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESP
NDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKLKVKLDDLLAYLPSDDSSLPKDVSPTQAKSSAFDRY
ADAGTVQEMLRTQSVACIKHIVDCIRAELQSIEEGVQGQQDALNSAKLHSVLFMARLCQSLGELCPHLKQCILGKSESSE
KPAREFRALRKQGKVKTQEIIPTQAKWQEVKEVLLQQSVMGYQVWSSAVVKVLIHGFTQSLLLDDAGSVLATATSWDELE
IQEEAESGSSVTSKIRLPAQPSWYVQSFLFSLCQEINRVGGHALPKVTLQEMLKSCMVQVVAAYEKLSEEKQIKKEGAFP
VTQNRALQLLYDLRYLNIVLTAKGDEVKSGRSKPDSRIEKVTDHLEALIDPFDLDVFTPHLNSNLHRLVQRTSVLFGLVT
GTENQLAPRSSTFNSQEPHNILPLASSQIRFGLLPLSMTSTRKAKSTRNIETKAQVVPPARSTAGDPTVPGSLFRQLVSE
EDNMSAPSLFKLGWLSSMTK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001938367 CLINVAR
dbSNP (RS) rs767105962 CLINVAR
MedGen C2931011 CLINVAR
NCBI Gene COG1 CLINVAR
  FAM104A CLINVAR
OMIM 606973 CLINVAR
  611209 CLINVAR
SNOMED CT 718750004 CLINVAR