Variant #0000578026 (NC_000005.9:g.176820765G>A, NC_000005.9(NM_003052.4):c.1006+1G>A (SLC34A1))

Individual ID 00248174
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.176820765G>A
DNA change (hg38) g.177393764G>A
Published as -
ISCN -
DB-ID SLC34A1_000003 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner Valeriia Apukhtina
Database submission license No license selected
Created by Valeriia Apukhtina
Date created 2019-07-19 15:14:42 +02:00 (CEST)
Date last edited 2020-06-18 11:08:06 +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 +?/. - c.1006+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249279 DNA SEQ-NG-I Blood WES - 2 Valeriia Apukhtina


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