Variant #0000116147 (NC_000001.10:g.241676972G>A, FH(NM_000143.3):c.309C>T)

Individual ID 00072592
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676972G>A
DNA change (hg38) g.241513672G>A
Published as 309C>T (Ala103Ala)
ISCN -
DB-ID FH_000016 See all 5 reported entries
Variant remarks -
Reference PubMed: Barker
ClinVar ID -
dbSNP ID rs10926501
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00671 View details
Owner Jean-Pierre Bayley
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Jean-Pierre Bayley
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 ?/? 3 c.309C>T r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072749 DNA SEQ - - FH 1 Jean-Pierre Bayley