Variant #0000280941 (NC_000011.9:g.117693255T>C, FXYD2(NM_021603.3):c.59-60A>G)

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.117693255T>C
DNA change (hg38) g.117822540T>C
Published as FXYD2(NM_021603.4):c.59-60A>G, FXYD6-FXYD2(NM_001204268.3):c.299-60A>G
ISCN -
DB-ID FXYD2_000003
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FXYD6-FXYD2 NM_001204268.1 -/. - c.299-60A>G r.(=) p.(=)
FXYD2 NM_021603.3 -/. - c.59-60A>G r.(=) p.(=)
FXYD6 NM_022003.3 -/. - c.*15759A>G r.(=) p.(=)