Variant #0000733510 (NC_000001.10:g.236978932_236978933del, MTR(NM_000254.2):c.638_639del)
Individual ID |
00334275 |
Chromosome |
1 |
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.236978932_236978933del |
DNA change (hg38) |
g.236815632_236815633del |
Published as |
635_636delTT |
ISCN |
- |
DB-ID |
MTR_000073 |
Variant remarks |
- |
Reference |
PubMed: Stone 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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