Variant #0000346055 (NC_000011.9:g.117693139C>T, FXYD2(NM_021603.3):c.115G>A)

Chromosome 11
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.117693139C>T
DNA change (hg38) g.117822424C>T
Published as -
ISCN -
DB-ID FXYD2_000005
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) Variant not found in online data sets
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.355G>A r.(?) p.(Gly119Arg)
FXYD2 NM_021603.3 +/. - c.115G>A r.(?) p.(Gly39Arg)
FXYD6 NM_022003.3 +/. - c.*15875G>A r.(=) p.(=)