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
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