Variant #0000248748 (NC_000004.11:g.25678199A>G, SLC34A2(NM_006424.2):c.1901=)

Chromosome 4
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.25678199A>G
DNA change (hg38) g.25676577A>G
Published as SLC34A2(NM_001177999.1):c.1898A>G (p.D633G), SLC34A2(NM_001177999.2):c.1898A>G (p.D633G)
ISCN -
DB-ID SLC34A2_000003 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.86139 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SLC34A2 NM_006424.2 -/. - c.1901= r.(=) p.(Gly634=)