Variant #0000575542 (NC_000023.10:g.31089842G>A, FTHL17(NM_031894.2):c.229C>T)

Chromosome X
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.31089842G>A
DNA change (hg38) g.31071725G>A
Published as FTHL17(NM_031894.2):c.229C>T (p.(Arg77Cys))
ISCN -
DB-ID FTHL17_000005
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) 0.00031 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FTHL17 NM_031894.2 -?/. - c.229C>T r.(?) p.(Arg77Cys)