Variant #0000921666 (NC_000019.9:g.49469087T>C, NM_000146.3:c.163T>C (FTL))

Individual ID 00434130
Chromosome 19
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.49469087T>C
DNA change (hg38) g.48965830T>C
Published as -
ISCN -
DB-ID FTL_000030 See all 9 reported entries
Variant remarks -
Reference PubMed: Li 2019
ClinVar ID -
dbSNP ID rs2230267
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.50001 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-03-20 14:55:46 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FTL NM_000146.3 -?/. - c.163T>C r.(?) p.(Leu55=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000435597 DNA SEQ;SEQ-NG - gene panel - 26 Johan den Dunnen


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