Variant #0000277522 (NC_000006.11:g.42147061C>T, NM_000409.3:c.526C>T (GUCA1A))
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42147061C>T |
DNA change (hg38) |
g.42179323C>T |
Published as |
LOC118142757(NM_000409.5):c.526C>T (p.L176F) |
ISCN |
- |
DB-ID |
GUCA1A_000007 See all 20 reported entries |
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) |
Retrieve |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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