RGD:156341563 Rat Genome Database

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Variant: RGD:156341563 -  Homo sapiens

RGD ID: 156341563
ClinVar ID: CV2103280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG1  EEF2KMT  LOC127883023  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 5,134,852
GRCh38 16 5,084,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289029.2:c.*781C>G
NM_201400.4:c.*781C>G
NM_201598.4:c.*781C>G
NM_001330504.2:c.1032G>C
More... 		07/05/2022 3 prime utr variant uncertain significance ALG1-CDG; CDG 1K; CDG Ik; Congenital disorder of glycosylation type 1K; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:3UTRS;EXON

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

Gene Symbol:EEF2KMT
Accession:NM_201598
Location:3UTRS;EXON

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

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

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

Gene Symbol:ALG1
Accession:NM_019109
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVIT
GKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHEL
VKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVHTVLPLVMDT*

Gene Symbol:ALG1
Accession:XM_017023457
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 442
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQN
NRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYG
YSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSM
HSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEFEQLTLDGHNLPSLVCVITGKGPLREYYSRLI
HQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDS
EELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVHTVLPLVMDT*

Gene Symbol:ALG1
Accession:NM_001330504
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHL
NLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVT
RLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAE
DYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPA
GKLNQFRKNLRESQQLRWDESWVHTVLPLVMDT*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002900507 CLINVAR
MedGen C2931005 CLINVAR
NCBI Gene ALG1 CLINVAR
  EEF2KMT CLINVAR
OMIM 605907 CLINVAR
  608540 CLINVAR
  615263 CLINVAR