Variant #0000194398 (NC_000002.11:g.233407740_233407741del, CHRNG(NM_005199.4):c.753_754del)
Individual ID |
00117841 |
Chromosome |
2 |
Allele |
Paternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.233407740_233407741del |
DNA change (hg38) |
g.232543030_232543031del |
Published as |
753_754delCT |
ISCN |
- |
DB-ID |
CHRNG_000008 See all 5 reported entries |
Variant remarks |
Compound Heterozygote |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (large NGS studies) |
0.00016 View details |
Owner |
Johan den Dunnen |

Variant on transcripts
Screenings
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