Variant #0000859888 (NC_000005.9:g.177031554C>G, NC_000005.9(NM_007255.2):c.413+12C>G (B4GALT7))

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.177031554C>G
DNA change (hg38) -
Published as B4GALT7(NM_007255.3):c.413+12C>G
ISCN -
DB-ID B4GALT7_000042
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00272 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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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 -/. - c.413+12C>G r.(=) p.(=) - -


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