Variant #0000647647 (NC_000001.10:g.241682891C>T, FH(NM_000143.3):c.132G>A)

Individual ID 00289790
Chromosome 1
Allele Parent #1
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.241682891C>T
DNA change (hg38) g.241519591C>T
Published as -
ISCN -
DB-ID FH_000241
Variant remarks conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs863223982
Origin Germline
Segregation -
Frequency 1/2791 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 ?/. - c.132G>A r.(?) p.(Met44Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290958 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq