Variant #0000078711 (NC_000008.10:g.145742788G>C, NC_000008.10(NM_004260.3):c.213+10C>G (RECQL4))
Individual ID |
00049880 |
Chromosome |
8 |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.145742788G>C |
DNA change (hg38) |
g.144517404G>C |
Published as |
- |
ISCN |
- |
DB-ID |
RECQL4_000043 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
1/45 patients |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Sabina Gallati, Prof. |
Database submission license |
No license selected |
Created by |
Sabina Gallati, Prof. |
Date created |
2015-09-13 22:09:40 +02:00 (CEST) |
Date last edited |
2016-01-26 03:26:04 +01:00 (CET) |

Variant on transcripts
Screenings
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