Variant #0000813896 (NC_000015.9:g.?, NM_002420.5:c.(?_-1)_(*1_?)del) (TRPM1))
| Individual ID |
00385170 |
| Chromosome |
15 |
| 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.? |
| DNA change (hg38) |
g.? |
| Published as |
TRPM1;NM_002420.5;c.[2951G>A]p.[(Arg984His)]Heterozygous;(microarrayidentifieda15q13.3microdeletionreportedinthelossoftheTRPM1gene;NM_002420.5;c.(?_-1)_(*1_?)de |
| ISCN |
- |
| DB-ID |
IGF1R_000000 See all 110 reported entries |
| Variant remarks |
compound heterozygous |
| Reference |
PubMed: Jiman 2020 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-10-08 17:29:22 +02:00 (CEST) |
| Date last edited |
N/A |
Variant on transcripts
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