Variant #0000336856 (NC_000011.9:g.117698762G>A, FXYD2(NM_021603.3):c.-34C>T)

Chromosome 11
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.117698762G>A
DNA change (hg38) g.117828047G>A
Published as FXYD2():g.117698762G>A
ISCN -
DB-ID FXYD2_000006
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) 0.35327 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FXYD6-FXYD2 NM_001204268.1 -/. - c.260-5330C>T r.(=) p.(=)
FXYD2 NM_021603.3 -/. - c.-34C>T r.(?) p.(=)
FXYD6 NM_022003.3 -/. - c.*10252C>T r.(=) p.(=)