Variant #0000075199 (NC_000013.10:g.31821256C>G, NC_000013.10(NM_194318.3):c.347+20C>G (B3GLCT))

Individual ID 00000019
Chromosome 13
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.31821256C>G
DNA change (hg38) g.31247119C>G
Published as -
ISCN -
DB-ID B3GLCT_000010 See all 7 reported entries
Variant remarks -
Reference PubMed: Almomani 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.35943 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
Date created 2012-05-01 14:57:47 +02:00 (CEST)
Date last edited 2018-08-26 14:16:48 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
B3GLCT NM_194318.3 ?/. 5i c.347+20C>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000019 DNA SEQ-NG - - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 Global Variome, with Curator vacancy


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