Variant #0000647345 (NC_000001.10:g.116236581G>A, NM_138959.2:c.*2581G>A (VANGL1))
Individual ID |
00289488 |
Chromosome |
1 |
Allele |
Parent #1 |
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.116236581G>A |
DNA change (hg38) |
g.115693960G>A |
Published as |
- |
ISCN |
- |
DB-ID |
VANGL1_000006 See all 2 reported entries |
Variant remarks |
194 heterozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs3811008 |
Origin |
Germline |
Segregation |
- |
Frequency |
194/2793 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-03-11 19:46:11 +01:00 (CET) |
Date last edited |
2023-02-15 13:53:36 +01:00 (CET) |

Variant on transcripts
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