Variant #0000437036 (NC_000020.10:g.?, NM_032034.3:c.? (SLC4A11))
Individual ID |
00206355 |
Chromosome |
20 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.? |
DNA change (hg38) |
- |
Published as |
c.1044+25del19nucleotides |
ISCN |
- |
DB-ID |
SLC4A11_000064 |
Variant remarks |
Disruption of intron in conserved sequence possibly altering function of splice enhancer |
Reference |
PubMed: Aldahmesh 2009 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
LOVD |
Database submission license |
No license selected |
Created by |
Joe Casey |
Date created |
2012-01-06 17:38:03 +01:00 (CET) |
Date last edited |
2012-01-06 18:06:55 +01:00 (CET) |
Variant on transcripts
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