Variant #0000086048 (NC_000012.11:g.124184249A>G, NC_000012.11(NM_024809.4):c.1506-2A>G (TCTN2))
| Individual ID |
00056055 |
| Chromosome |
12 |
| Allele |
Both (homozygous) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.124184249A>G |
| DNA change (hg38) |
g.123699702A>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
TCTN2_000004 See all 13 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Watson 2016, Journal: Watson 2016 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
| Owner |
Christopher Watson |
| Database submission license |
No license selected |
| Created by |
Christopher Watson |
| Date created |
2015-12-08 17:02:03 +01:00 (CET) |
| Date last edited |
2020-07-03 11:25:51 +02:00 (CEST) |

Variant on transcripts
Screenings
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