Variant #0000154130 (NC_000005.9:g.176824792_176824793del, NM_003052.4:c.1425_1426del (SLC34A1))

Individual ID 00095162
Chromosome 5
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.176824792_176824793del
DNA change (hg38) g.177397791_177397792del
Published as 1425_26del
ISCN -
DB-ID SLC34A1_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Schlingmann 2016, Journal: Schlingmann 2016
ClinVar ID -
dbSNP ID rs769409705
Origin Germline
Segregation yes
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-01-07 11:15:15 +01:00 (CET)
Date last edited 2025-07-19 01:39:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC34A1 NM_003052.4 +/. 13 c.1425_1426del r.(?) p.(Cys476Serfs*128)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095560 DNA SEQ;SEQ-NG - - SLC34A1 1 Johan den Dunnen


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