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


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC4A11 NM_032034.3 +?/+? ? c.? r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000207387 DNA SEQ - - SLC4A11 1 LOVD


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