Variant #0000288003 (NC_000011.9:g.117693150G>T, FXYD2(NM_021603.3):c.104C>A)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.117693150G>T
DNA change (hg38) g.117822435G>T
Published as FXYD2(NM_021603.3):c.104C>A (p.A35D)
ISCN -
DB-ID FXYD2_000002
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) 0.00062 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FXYD6-FXYD2 NM_001204268.1 ?/. - c.344C>A r.(?) p.(Ala115Asp)
FXYD2 NM_021603.3 ?/. - c.104C>A r.(?) p.(Ala35Asp)
FXYD6 NM_022003.3 ?/. - c.*15864C>A r.(=) p.(=)