Variant #0001019658 (NC_000023.10:g.18690188T>A, NM_000330.3:c.1A>T (RS1))
Individual ID |
00459018 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18690188T>A |
DNA change (hg38) |
g.18672068T>A |
Published as |
[35T>A;52+5G>C] |
ISCN |
- |
DB-ID |
RS1_000160 See all 8 reported entries |
Variant remarks |
ACMG PVS1, PS4, PM2, PS3>M, PP3, PP4 |
Reference |
PubMed: Bender 2022 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-12-24 08:52:01 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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