Variant #0000719887 (NC_000004.11:g.25675927_25675928dup, SLC34A2(NM_006424.2):c.1226_1227dup)

Chromosome 4
Allele Unknown
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.25675927_25675928dup
DNA change (hg38) -
Published as SLC34A2(NM_001177999.1):c.1223_1224dupTT (p.P409Ffs*6)
ISCN -
DB-ID SLC34A2_000005
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) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC34A2 NM_006424.2 +/. - c.1226_1227dup r.(?) p.(Pro410PhefsTer6)