Variant #0000829298 (NC_000023.10:g.18687473_18691946del, NC_000023.10(NM_000330.3):c.-1758_52+2664del (RS1))
Individual ID |
00396087 |
Chromosome |
X |
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.18687473_18691946del |
DNA change (hg38) |
g.18669353_18673826del |
Published as |
c.(-35)-1723_c.51+2664del4472 |
ISCN |
- |
DB-ID |
RS1_000324 |
Variant remarks |
error in annotation, exon 1 is ending on nucleotide 52 |
Reference |
PubMed: D'Souza |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-12-13 12:50:19 +01:00 (CET) |
Date last edited |
2024-12-22 10:52:33 +01:00 (CET) |

Variant on transcripts
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