Variant #0000331175 (NC_000006.11:g.117890791C>T, NM_173674.1:c.*4C>T (DCBLD1))

Chromosome 6
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.117890791C>T
DNA change (hg38) g.117569628C>T
Published as GOPC(NM_001017408.2):c.997G>A (p.(Gly333Arg))
ISCN -
DB-ID DCBLD1_000002
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GOPC NM_020399.3 ?/. - c.1021G>A r.(?) p.(Gly341Arg)
DCBLD1 NM_173674.1 ?/. - c.*4C>T r.(=) p.(=)


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