Variant #0000502631 (NC_000001.10:g.1164084_1164086del, B3GALT6(NM_080605.3):c.-3575_-3573del)

Chromosome 1
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.1164084_1164086del
DNA change (hg38) g.1228704_1228706del
Published as SDF4(NM_016176.3):c.90_92del (p.(Leu31del))
ISCN -
DB-ID B3GALT6_000052
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
SDF4 NM_016176.3 ?/. - c.90_92del r.(?) p.(Leu31del) - -
B3GALT6 NM_080605.3 ?/. - c.-3575_-3573del r.(?) p.(=) - -