Variant #0000377954 (NC_000023.10:g.85302534C>T, NM_000390.2:c.3G>A (CHM))
Individual ID |
00166587 |
Chromosome |
X |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Affects function |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.85302534C>T |
DNA change (hg38) |
g.86047530C>T |
Published as |
33G>A |
ISCN |
- |
DB-ID |
CHM_000128 See all 3 reported entries |
Variant remarks |
hemizygous |
Reference |
PubMed: Strunnikova 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
-BccI;-EciI; |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2011-09-06 11:55:16 +02:00 (CEST) |
Date last edited |
2019-06-28 18:42:37 +02:00 (CEST) |

Variant on transcripts
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