ClinVar Genomic variation as it relates to human health
NM_000133.4(F9):c.138G>Y (p.Arg46Ser)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
F9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
578 | 762 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 1986 | RCV000011311.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024
NCBI staff provided an HGVS expression for allelic variant 300746.0009 from the sequence reported in Figure 5 of the paper by Diuguid et al., 1986 (PubMed 3461460).