Variant #0000325151 (NC_000017.10:g.7365611C>T, NM_000747.2:c.*5569C>T (CHRNB1))

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7365611C>T
DNA change (hg38) g.7462292C>T
Published as ZBTB4(NM_001128833.1):c.2690G>A (p.(Gly897Glu))
ISCN -
DB-ID ZBTB4_000001
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 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 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNB1 NM_000747.2 -?/. - c.*5569C>T r.(=) p.(=)
SLC35G6 NM_001102614.1 -?/. - c.-19225C>T r.(?) p.(=)
ZBTB4 NM_020899.3 -?/. - c.2690G>A r.(?) p.(Gly897Glu)


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