Variant #0000283909 (NC_000011.9:g.63978254G>A, NM_031471.5:c.332G>A (FERMT3))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.63978254G>A
DNA change (hg38) g.64210782G>A
Published as FERMT3(NM_031471.5):c.332G>A (p.(Arg111His)), FERMT3(NM_178443.2):c.332G>A (p.R111H), FERMT3(NM_178443.3):c.332G>A (p.R111H)
ISCN -
DB-ID FERMT3_000003 See all 4 reported entries
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) 0.00057 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FERMT3 NM_031471.5 ?/. - c.332G>A r.(?) p.(Arg111His)
TRPT1 NM_031472.3 ?/. - c.*13094C>T r.(=) p.(=)


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