Variant #0000651678 (NC_000005.9:g.176813433C>T, NM_003052.4:c.398C>T (SLC34A1))

Individual ID 00293821
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.176813433C>T
DNA change (hg38) g.177386432C>T
Published as -
ISCN -
DB-ID SLC34A1_000019 See all 5 reported entries
Variant remarks 21 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs148976897
Origin Germline
Segregation -
Frequency 21/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00375 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2020-10-30 12:38:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC34A1 NM_003052.4 -?/. - c.398C>T r.(?) p.(Ala133Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000294989 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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