ClinVar Genomic variation as it relates to human health
NM_021870.3(FGG):c.1210T>C (p.Ser404Pro)
Germline
Classification
(2)
Uncertain significance
criteria provided, single submitter
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 | |||
FGG | - | - |
GRCh38 GRCh37 |
141 | 175 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 15, 2005 | RCV000144152.11 | |
Uncertain significance (1) |
|
Jul 29, 2020 | RCV001509237.13 |
Citations for germline classification of this variant
HelpText-mined citations for rs587777720 ...
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 Sep 01, 2024
NCBI staff reviewed the sequence information reported in PubMed 15632207 to determine the location of this allele on the current reference sequence. The amino acid numbering is based on the processed protein. For the unprocessed codon numbering, add 26 to account for the signal peptide. Thus, Ser378 becomes Ser404.