Variant #0000118957 (NC_000016.9:g.81129822G>A, NM_004483.4:c.62C>T (GCSH))
Individual ID |
00074416 |
Chromosome |
16 |
Allele |
Paternal (inferred) |
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.81129822G>A |
DNA change (hg38) |
g.81096217G>A |
Published as |
- |
ISCN |
- |
DB-ID |
GCSH_000002 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Kure 2002 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.54127 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-06-28 21:24:34 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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