Variant #0000503048 (NC_000001.10:g.1475108dup, TMEM240(NM_001114748.1):c.120dup)
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.1475108dup |
DNA change (hg38) |
g.1539728dup |
Published as |
TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192) |
ISCN |
- |
DB-ID |
SSU72_000002 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
VKGL-NL_Rotterdam |

Variant on transcripts
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