Variant #0000948532 (NC_000005.9:g.176821016_176821024del, NC_000005.9(NM_003052.4):c.1007-13_1007-5del (SLC34A1))

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.176821016_176821024del
DNA change (hg38) -
Published as SLC34A1(NM_003052.5):c.1007-13_1007-5delCCACCCCCT
ISCN -
DB-ID SLC34A1_000036
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC34A1 NM_003052.4 ?/. - c.1007-13_1007-5del r.spl? p.?


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