Genomic variant #0000116148

Individual ID 00073002
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.241676972G>A
DNA change (hg38) g.241513672G>A
Published as p.Ala60Ala
ISCN -
DB-ID FH_000016 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs10926501
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02991 View details
Owner Audrey Remenieras




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000073159 DNA SEQ - - FH 4 Audrey Remenieras