RGD:126916394 Rat Genome Database

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Variant: RGD:126916394 -  Homo sapiens

RGD ID: 126916394
RS ID: rs748117240
ClinVar ID: CV1048381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG11  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 52,598,388
GRCh38 13 52,024,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004127.3:c.522T>G
NG_028038.1:g.16866T>G
NC_000013.11:g.52024252T>G
NC_000013.10:g.52598388T>G
More... 		09/24/2020 missense variant uncertain significance ALG11-CDG; 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: D to E (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRLLLQRKKKLVSTSKNGKNQMVIAFFHPYCNAGGGGER
VLWCALRALQKKYPEAVYVVYTGDVNVNGQQILEGAFRRFNIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLG
WEALMQCVPDVYIESMGYAFTLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFNNAAFITRNPFLSKVKLIYYYLF
AFIYGLVGSCSDVVMVNSSWTLNHILSLWKVGNCTNIVYPPCDVQTFLDIPLHEKKMTPGHLLVSVGQFRPEKNHPLQIR
AFAKLLNKKMVESPPSLKLVLIGGCRNKDDELRVNQLRRLSEDLGVQEYVEFKINIPFDELKNYLSEATIGLHTMWNEHF
GIGVVECMAAGTIILAHNSGGPKLDIVVPHEGDITGFLAESEEDYAETIAHILSMSAEKRLQIRKSARASVSRFSDQEFE
VTFLSSVEKLFK*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001371482 CLINVAR
dbSNP (RS) rs748117240 CLINVAR
MedGen C3150913 CLINVAR
NCBI Gene ALG11 CLINVAR
OMIM 613661 CLINVAR
  613666 CLINVAR