ClinVar Genomic variation as it relates to human health
NM_032545.4(CFC1):c.361_362+18dup
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 | |||
CFC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2002 | RCV000005500.11 |
Citations for germline classification of this variant
HelpText-mined citations for rs863223280 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Apr 20, 2024
NCBI staff reviewed the sequence information reported in PubMed 11799476 Fig. 2A to determine the location of this allele on the current reference sequence.