RGD:26912220 Rat Genome Database

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Variant: RGD:26912220 -  Homo sapiens

RGD ID: 26912220
RS ID: rs749131756
ClinVar ID: CV849585
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1GALT1C1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 119,760,082
GRCh38 X 120,626,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152692.5:c.940G>C
NM_001011551.3:c.940G>C
NG_016219.1:g.8924G>C
NC_000023.11:g.120626227C>G
More... 		12/24/2019 missense variant uncertain significance GALACTOSYLTRANSFERASE DEFICIENCY; TN POLYAGGLUTINATION SYNDROME; TN POLYAGGLUTINATION SYNDROME, SOMATIC
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C1GALT1C1
Accession:NM_001011551
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKDV
SLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLK
KDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDA
DGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNRSDND*

Gene Symbol:C1GALT1C1
Accession:NM_152692
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKDV
SLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLK
KDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDA
DGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNRSDND*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001053310 CLINVAR
dbSNP (RS) rs749131756 CLINVAR
MedGen C0272137 CLINVAR
NCBI Gene C1GALT1C1 CLINVAR
OMIM 300611 CLINVAR
  300622 CLINVAR
SNOMED CT 40387008 CLINVAR