Genomic variant #0000128188

Individual ID 00079409
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.241680543C>A
DNA change (hg38) g.241517243C>A
Published as G69V
ISCN -
DB-ID FH_000175
Variant remarks -
Reference PubMed: Laufer
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jean-Pierre Bayley




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
FH NM_000143.3 ?/. 2 c.206G>T - r.(?) p.(Gly69Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079482 DNA SEQ - - FH 1 Jean-Pierre Bayley