Variant #0000647648 (NC_000001.10:g.24192068G>A, NM_000147.4:c.437C>T (FUCA1))

Individual ID 00289791
Chromosome 1
Allele Parent #1
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.24192068G>A
DNA change (hg38) g.23865578G>A
Published as -
ISCN -
DB-ID FUCA1_000017
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2228424
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00186 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2025-06-09 09:34:54 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FUCA1 NM_000147.4 -?/. - c.437C>T r.(?) p.(Pro146Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290959 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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