Variant #0000898093 (NC_000006.11:g.5613418C>T, NM_006567.3:c.1082C>T (FARS2))

Individual ID 00421533
Chromosome 6
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.5613418C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID FARS2_000029 See all 3 reported entries
Variant remarks ACMG: PS4, PS3_MOD, PM3, PM2_SUP, PP3
Reference PMID: 35794642, 29126765, 32007496
ClinVar ID VCV000214335.15
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00013 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2022-11-07 13:43:37 +01:00 (CET)
Date last edited 2022-11-09 11:24:32 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FARS2 NM_006567.3 +/. - c.1082C>T r.(?) p.(Pro361Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000422844 DNA SEQ-NG-I - - FARS2 2 Andreas Laner


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