Variant #0000267827 (NC_000023.10:g.153607943G>A, FLNA(NM_001110556.1):c.-5186C>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.153607943G>A
DNA change (hg38) g.154379583G>A
Published as EMD(NM_000117.2):c.82+17G>A
ISCN -
DB-ID EMD_000117
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     
EMD NM_000117.2 -?/. - c.82+17G>A r.(=) p.(=)
FLNA NM_001110556.1 -?/. - c.-5186C>T r.(?) p.(=)