Variant #0000622554 (NC_000011.9:g.117691390C>A, FXYD2(NM_021603.3):c.192G>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.117691390C>A
DNA change (hg38) g.117820675C>A
Published as FXYD2(NM_001680.5):c.198G>T (p.P66=)
ISCN -
DB-ID FXYD2_000007
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) 0.00018 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.432G>T r.(?) p.(Pro144=)
FXYD2 NM_021603.3 -?/. - c.192G>T r.(?) p.(Pro64=)
FXYD6 NM_022003.3 -?/. - c.*17624G>T r.(=) p.(=)