Variant #0000147181 (NC_000003.11:g.112299935T>C, NM_017945.2:c.971T>C (SLC35A5))

Individual ID 00089106
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112299935T>C
DNA change (hg38) g.112581088T>C
Published as -
ISCN -
DB-ID SLC35A5_000001
Variant remarks -
Reference PubMed: Poirier 2017, Journal: Poirier 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Karine Poirier
Database submission license No license selected
Created by Karine Poirier
Date created 2016-11-29 12:11:10 +01:00 (CET)
Date last edited 2017-05-16 11:13:04 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC35A5 NM_017945.2 ?/. - c.971T>C r.(?) p.(Leu324Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000089252 DNA SEQ-NG blood - CES5A, EGFR, GADL1, KCNC1, KIAA1024, SLC35A5, TPH1 8 Karine Poirier


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