RGD:156245417 Rat Genome Database

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Variant: RGD:156245417 -  Homo sapiens

RGD ID: 156245417
ClinVar ID: CV2044703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALG1  EEF2KMT  LOC127883023  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 5,134,811
GRCh38 16 5,084,810
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.*822G>T
NM_201400.4:c.*822G>T
NM_201598.4:c.*822G>T
NM_019109.5:c.1324C>A
More... 		08/09/2022 3 prime utr variant likely benign 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:XM_011522404
Location:3UTRS;EXON

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

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

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

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

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

Gene Symbol:ALG1
Accession:NM_019109
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 442
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: 429
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: 331
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002805823 CLINVAR
MedGen C2931005 CLINVAR
NCBI Gene ALG1 CLINVAR
  EEF2KMT CLINVAR
OMIM 605907 CLINVAR
  608540 CLINVAR
  615263 CLINVAR