Variant #0000723221 (NC_000011.9:g.117693134G>A, FXYD2(NM_021603.3):c.120C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.117693134G>A
DNA change (hg38) -
Published as FXYD2(NM_001680.5):c.126C>T (p.L42=)
ISCN -
DB-ID FXYD2_000010
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) 0.00039 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FXYD6-FXYD2 NM_001204268.1 -?/. - c.360C>T r.(?) p.(Leu120=)
FXYD2 NM_021603.3 -?/. - c.120C>T r.(?) p.(Leu40=)
FXYD6 NM_022003.3 -?/. - c.*15880C>T r.(=) p.(=)