RGD:11608702 Rat Genome Database

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Variant: RGD:11608702 -  Homo sapiens

RGD ID: 11608702
RS ID: rs61958802
ClinVar ID: CV319995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 52,598,799
GRCh38 13 52,024,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028038.1:g.17277G>A
NC_000013.11:g.52024663G>A
NC_000013.10:g.52598799G>A
NP_001004127.2:p.Pro311=
More... 		12/31/2019 intron variant|synonymous variant benign|likely benign ALG11-CDG; AllHighlyPenetrant; Congenital disorder of glycosylation type 1P; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALG11
Accession:NM_001004127
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRLLLQRKKKLVSTSKNGKNQMVIAFFHPYCNAGGGGER
VLWCALRALQKKYPEAVYVVYTGDVNVNGQQILEGAFRRFNIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLG
WEALMQCVPDVYIDSMGYAFTLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFNNAAFITRNPFLSKVKLIYYYLF
AFIYGLVGSCSDVVMVNSSWTLNHILSLWKVGNCTNIVYPPCDVQTFLDIPLHEKKMTPGHLLVSVGQFRPEKNHPLQIR
AFAKLLNKKMVESPPSLKLVLIGGCRNKDDELRVNQLRRLSEDLGVQEYVEFKINIPFDELKNYLSEATIGLHTMWNEHF
GIGVVECMAAGTIILAHNSGGPKLDIVVPHEGDITGFLAESEEDYAETIAHILSMSAEKRLQIRKSARASVSRFSDQEFE
VTFLSSVEKLFK*

Gene Symbol:ALG11
Accession:NR_036571
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000443076 CLINVAR
  RCV000539935 CLINVAR
  RCV003972330 CLINVAR
dbSNP (RS) rs61958802 CLINVAR
MedGen C3150913 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALG11 CLINVAR
OMIM 613661 CLINVAR
  613666 CLINVAR