Variant #0000917407 (NC_000003.11:g.128891420_128891575CAGG[(24_32)]CAGA[(7_9)]CA[(17_20)], NM_003418.4:c.-14-961_-14-806TG[(17_20)]TCTG[(7_9)]CCTG[(24_32)] (CNBP))
Individual ID |
00430663 |
Chromosome |
3 |
Allele |
Parent #1 |
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.128891420_128891575CAGG[(24_32)]CAGA[(7_9)]CA[(17_20)] |
DNA change (hg38) |
g.129172577_129172732CAGG[(24_32)]CAGA[(7_9)]CA[(17_20)] |
Published as |
- |
ISCN |
- |
DB-ID |
CNBP_000031 |
Variant remarks |
- |
Reference |
PubMed: Bachinski 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
4/44 control chromosomes |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2023-01-22 13:18:19 +01:00 (CET) |
Date last edited |
N/A |
Variant on transcripts
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