Variant #0000723223 (NC_000011.9:g.117693403A>G, FXYD2(NM_021603.3):c.49T>C)

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.117693403A>G
DNA change (hg38) -
Published as FXYD2(NM_001680.5):c.55T>C (p.F19L)
ISCN -
DB-ID FXYD2_000012
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) 0.00033 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.289T>C r.(?) p.(Phe97Leu)
FXYD2 NM_021603.3 -?/. - c.49T>C r.(?) p.(Phe17Leu)
FXYD6 NM_022003.3 -?/. - c.*15611T>C r.(=) p.(=)