Variant #0001038566 (NC_000011.9:g.63974817_63974818del, NC_000011.9(NM_031471.5):c.-14-6_-14-5del (FERMT3))

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.63974817_63974818del
DNA change (hg38) -
Published as FERMT3(NM_031471.6):c.-14-6_-14-5del
ISCN -
DB-ID FERMT3_000084
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
STIP1 NM_006819.2 -?/. - c.*3219_*3220del r.(=) p.(=)
FERMT3 NM_031471.5 -?/. - c.-14-6_-14-5del r.spl? p.?
TRPT1 NM_031472.3 -?/. - c.*16534_*16535del r.(=) p.(=)


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