rs16835020 Rat Genome Database

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Variant: rs16835020 -  Homo sapiens

RGD ID: 14979020
RS ID: rs16835020
ClinVar ID: CV678020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG1  EEF2KMT  LOC127883023  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 5,134,799
GRCh38 16 5,084,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330504.2:c.979C>T
NM_001289029.2:c.*834G>A
NC_000016.9:g.5134799C>T
NM_201598.4:c.*834G>A
More... 		10/24/2022 3 prime utr variant pathogenic|likely pathogenic ALG1-CDG; Carbohydrate-deficient glycoprotein syndrome; CDG 1K; CDG Ik; Congenital disorder of glycosylation type 1K; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; Congenital disorders of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:NM_201598
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:NM_201400
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:3UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:3UTRS;EXON

Gene Symbol:ALG1
Accession:NM_019109
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 438
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVIT
GKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHEL
VKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:XM_017023457
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEFEQLTLDGHNLPSLVCVITGKGPLREYYSRLI
HQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDS
EELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:NM_001330504
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHL
NLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVT
RLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAE
DYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPA
GKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT*

Gene Symbol:ALG1
Accession:XR_007064892
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20679665   PMID:24157261   PMID:25741868   PMID:26931382   PMID:28492532   PMID:34567092  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000851223 CLINVAR
  RCV001858477 CLINVAR
  RCV002538358 CLINVAR
dbSNP (RS) rs16835020 CLINVAR
MedGen C0282577 CLINVAR
  C0950123 CLINVAR
  C2931005 CLINVAR
NCBI Gene ALG1 CLINVAR
  EEF2KMT CLINVAR
OMIM 605907 CLINVAR
  608540 CLINVAR
  615263 CLINVAR
SNOMED CT 238049009 CLINVAR