Variant #0000346501 (NC_000005.9:g.176825069C>T, NM_000505.3:c.*4224G>A (F12))

Chromosome 5
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.176825069C>T
DNA change (hg38) g.177398068C>T
Published as SLC34A1(NM_003052.5):c.1702C>T (p.H568Y)
ISCN -
DB-ID SLC34A1_000022 See all 3 reported entries
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) 0.02222 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F12 NM_000505.3 -/. - c.*4224G>A r.(=) p.(=)
PFN3 NM_001029886.2 -/. - c.*2095G>A r.(=) p.(=)
SLC34A1 NM_003052.4 -/. - c.1702C>T r.(?) p.(His568Tyr)


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