RGD:11632323 Rat Genome Database

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Variant: RGD:11632323 -  Homo sapiens

RGD ID: 11632323
RS ID: rs12163163
ClinVar ID: CV352653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,297,591
GRCh38 22 49,903,943
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008927.1:g.19516C>T
NC_000022.11:g.49903943G>A
NC_000022.10:g.50297591G>A
NP_077010.1:p.Val454=
More... 		06/01/2022 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance ALG12-CDG; CDG 1G; CDG Ig; Congenital disorder of glycosylation, type Ig; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALG12
Accession:NM_024105
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHDLLYHWQDLEQYDHLEFPGVVPRTFLGPVVIAVFSSP
AVYVLSLLEMSKFYSQLIVRGVLGLGVIFGLWTLQKEVRRHFGAMVATMFCWVTAMQFHLMFYCTRTLPNVLALPVVLLA
LAAWLRHEWARFIWLSAFAIIVFRVELCLFLGLLLLLALGNRKVSVVRALRHAVPAGILCLGLTVAVDSYFWRQLTWPEG
KVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSLLFIPLGLVDRRTHAPTVLALGFMALYSLLPHKELRFIIYAFPML
NITAARGCSYLLNNYKKSWLYKAGSLLVIGHLVVNAAYSATALYVSHFNYPGGVAMQRLHQLVPPQTDVLLHIDVAAAQT
GVSRFLQVNSAWRYDKREDVQPGTGMLAYTHILMEAAPGLLALYRDTHRVLASVVGTTGVSLNLTQLPPFNVHLQTKLVL
LERLPRPS*

Gene Symbol:ALG12
Accession:XM_017028937
Location:INTRON

Gene Symbol:ALG12
Accession:XM_017028936
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967640 CLINVAR
  RCV003437089 CLINVAR
dbSNP (RS) rs12163163 CLINVAR
MedGen C2931001 CLINVAR
  C3661900 CLINVAR
NCBI Gene ALG12 CLINVAR
OMIM 607143 CLINVAR
  607144 CLINVAR
SNOMED CT 711155008 CLINVAR