Variant #0000666134 (NC_000005.9:g.177035995C>T, NM_007255.2:c.808C>T (B4GALT7))

Individual ID 00301655
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.177035995C>T
DNA change (hg38) g.177608994C>T
Published as -
ISCN -
DB-ID B4GALT7_000003 See all 30 reported entries
Variant remarks -
Reference PubMed: Cartault 2015, Journal: Cartault 2015
ClinVar ID -
dbSNP ID rs28937869
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Francois Cartault
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-20 08:16:52 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
B4GALT7 NM_007255.2 +/. 5 c.808C>T r.(?) p.(Arg270Cys) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000302780 DNA SEQ - - B4GALT7 1 Francois Cartault


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