Variant #0000298573 (NC_000001.10:g.61818161C>G, NM_001134673.3:c.740C>G (NFIA))

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.61818161C>G
DNA change (hg38) g.61352489C>G
Published as NFIA(NM_001134673.4):c.740C>G (p.S247*)
ISCN -
DB-ID NFIA_000001
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) Retrieve
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NFIA NM_001134673.3 +?/. - c.740C>G r.(?) p.(Ser247Ter)


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